PLCE1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1254815	NM_016341.4(PLCE1):c.-364-141dup	PLCE1	Duplication (intron variant)	not provided	GLikely benign
Select item 1260323	NM_016341.4(PLCE1):c.-364-141del	PLCE1	Deletion (intron variant)	not provided	GBenign
Select item 1320483	NM_016341.4(PLCE1):c.-364-138C>T	PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1712405	NM_016341.4(PLCE1):c.-10T>G	PLCE1	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
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 2168985	NM_016341.4(PLCE1):c.139A>C (p.Ser47Arg)	PLCE1 (S47R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3307351	NM_016341.4(PLCE1):c.158C>A (p.Thr53Asn)	PLCE1 (T53N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3214474	NM_016341.4(PLCE1):c.224T>C (p.Ile75Thr)	PLCE1 (I75T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	not provided +3 more	GBenign/Likely benign
Select item 1911623	NM_016341.4(PLCE1):c.230G>A (p.Arg77Lys)	PLCE1 (R77K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2671661	NM_016341.4(PLCE1):c.234G>C (p.Glu78Asp)	PLCE1 (E78D)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 2226285	NM_016341.4(PLCE1):c.245G>A (p.Ser82Asn)	PLCE1 (S82N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214478	NM_016341.4(PLCE1):c.249T>A (p.Asp83Glu)	PLCE1 (D83E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2920408	NM_016341.4(PLCE1):c.282C>T (p.Ile94=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 3029875	NM_016341.4(PLCE1):c.297G>A (p.Ala99=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder	GLikely benign
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 2663959	NM_016341.4(PLCE1):c.397G>T (p.Asp133Tyr)	PLCE1 (D133Y)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 1678362	NM_016341.4(PLCE1):c.440A>G (p.Lys147Arg)	PLCE1 (K147R)	Single nucleotide variant (missense variant)	not provided +1 more	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 2524419	NM_016341.4(PLCE1):c.449C>T (p.Pro150Leu)	PLCE1 (P150L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2006452	NM_016341.4(PLCE1):c.537C>T (p.His179=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1954092	NM_016341.4(PLCE1):c.583A>G (p.Arg195Gly)	PLCE1 (R195G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2316302	NM_016341.4(PLCE1):c.610C>G (p.Leu204Val)	PLCE1 (L204V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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)	Nephrotic syndrome, type 3 +1 more	GConflicting classifications of pathogenicity
Select item 3214494	NM_016341.4(PLCE1):c.649G>T (p.Val217Leu)	PLCE1 (V217L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 260731	NM_016341.4(PLCE1):c.651A>G (p.Val217=)	PLCE1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3214495	NM_016341.4(PLCE1):c.658C>T (p.Pro220Ser)	PLCE1 (P220S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 +1 more	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 1029440	NM_016341.4(PLCE1):c.733G>A (p.Asp245Asn)	PLCE1 (D245N)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 2869018	NM_016341.4(PLCE1):c.745G>A (p.Glu249Lys)	PLCE1 (E249K)	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 930200	NM_016341.4(PLCE1):c.756G>T (p.Gln252His)	PLCE1 (Q252H)	Single nucleotide variant (missense variant)	Glomerulonephritis	GUncertain significance
Select item 1446261	NM_016341.4(PLCE1):c.763C>T (p.His255Tyr)	PLCE1 (H255Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2280966	NM_016341.4(PLCE1):c.784A>C (p.Lys262Gln)	PLCE1 (K262Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214496	NM_016341.4(PLCE1):c.799G>C (p.Glu267Gln)	PLCE1 (E267Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2827696	NM_016341.4(PLCE1):c.809G>C (p.Cys270Ser)	PLCE1 (C270S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181865	NM_016341.4(PLCE1):c.810_811inv (p.Glu271Lys)	PLCE1 (E271K)	Inversion (missense variant)	not provided	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 1712347	NM_016341.4(PLCE1):c.826G>T (p.Val276Leu)	PLCE1 (V276L)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 3214498	NM_016341.4(PLCE1):c.843C>G (p.Ser281Arg)	PLCE1 (S281R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2468500	NM_016341.4(PLCE1):c.883A>G (p.Thr295Ala)	PLCE1 (T295A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3009390	NM_016341.4(PLCE1):c.909C>T (p.Phe303=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2214047	NM_016341.4(PLCE1):c.923A>G (p.Asp308Gly)	PLCE1 (D308G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2252698	NM_016341.4(PLCE1):c.928G>A (p.Val310Ile)	PLCE1 (V310I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2171892	NM_016341.4(PLCE1):c.939C>T (p.Asp313=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420038	NM_016341.4(PLCE1):c.940G>A (p.Ala314Thr)	PLCE1 (A314T)	Single nucleotide variant (missense variant)	not provided	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 18423	NM_016341.4(PLCE1):c.961C>T (p.Arg321Ter)	PLCE1 (R321*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 3	GPathogenic
Select item 2266255	NM_016341.4(PLCE1):c.962G>A (p.Arg321Gln)	PLCE1 (R321Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288923	NM_016341.4(PLCE1):c.997G>C (p.Asp333His)	PLCE1 (D333H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307358	NM_016341.4(PLCE1):c.1006G>A (p.Val336Ile)	PLCE1 (V336I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1909453	NM_016341.4(PLCE1):c.1034G>A (p.Arg345Lys)	PLCE1 (R345K)	Single nucleotide variant (missense variant)	not provided	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	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 3214470	NM_016341.4(PLCE1):c.1109G>T (p.Gly370Val)	PLCE1 (G370V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244048	NM_016341.4(PLCE1):c.1109G>A (p.Gly370Asp)	PLCE1 (G370D)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +1 more	GUncertain significance
Select item 3214471	NM_016341.4(PLCE1):c.1112C>G (p.Pro371Arg)	PLCE1 (P371R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403101	NM_016341.4(PLCE1):c.1112C>T (p.Pro371Leu)	PLCE1 (P371L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2040822	NM_016341.4(PLCE1):c.1132G>C (p.Val378Leu)	PLCE1 (V378L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2344	NM_016341.4(PLCE1):c.1146del (p.Ser383fs)	PLCE1 (S383fs)	Deletion (frameshift variant)	Nephrotic syndrome, type 3	GPathogenic
Select item 1686081	NM_016341.4(PLCE1):c.1148C>A (p.Ser383Ter)	PLCE1 (S383*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 3	GPathogenic
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 751881	NM_016341.4(PLCE1):c.1185G>A (p.Leu395=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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)	Nephrotic syndrome, type 3 +1 more	GUncertain significance

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