ClinVar for Gene (Select 51196) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3214496	NM_016341.4(PLCE1):c.799G>C (p.Glu267Gln)	PLCE1 (E267Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3214494	NM_016341.4(PLCE1):c.649G>T (p.Val217Leu)	PLCE1 (V217L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214493	NM_016341.4(PLCE1):c.6286A>G (p.Ser2096Gly)	NOC3L, PLCE1 (S2096G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214491	NM_016341.4(PLCE1):c.6139A>G (p.Thr2047Ala)	NOC3L, PLCE1 (T1739A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214490	NM_016341.4(PLCE1):c.5857A>C (p.Ile1953Leu)	PLCE1 (I1645L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214489	NM_016341.4(PLCE1):c.4922A>G (p.Tyr1641Cys)	PLCE1, PLCE1-AS1 (Y1333C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214488	NM_016341.4(PLCE1):c.4879A>T (p.Ile1627Leu)	PLCE1, PLCE1-AS1 (I1319L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3214487	NM_016341.4(PLCE1):c.3872T>C (p.Leu1291Pro)	PLCE1 (L983P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214486	NM_016341.4(PLCE1):c.3667A>C (p.Lys1223Gln)	PLCE1 (K915Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214485	NM_016341.4(PLCE1):c.3512T>C (p.Val1171Ala)	PLCE1 (V863A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3214484	NM_016341.4(PLCE1):c.3163A>C (p.Ser1055Arg)	PLCE1 (S1055R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214483	NM_016341.4(PLCE1):c.3082G>C (p.Val1028Leu)	PLCE1 (V1028L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214482	NM_016341.4(PLCE1):c.2974A>C (p.Lys992Gln)	PLCE1 (K684Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214481	NM_016341.4(PLCE1):c.2851A>G (p.Ile951Val)	PLCE1 (I643V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214480	NM_016341.4(PLCE1):c.2690C>A (p.Thr897Lys)	PLCE1 (T589K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214479	NM_016341.4(PLCE1):c.2557A>T (p.Ile853Phe)	PLCE1 (I853F +1 more)	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 3214477	NM_016341.4(PLCE1):c.2479T>C (p.Tyr827His)	PLCE1 (Y519H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214475	NM_016341.4(PLCE1):c.2446T>G (p.Ser816Ala)	PLCE1 (S816A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3214473	NM_016341.4(PLCE1):c.2158G>A (p.Ala720Thr)	PLCE1 (A720T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214472	NM_016341.4(PLCE1):c.1677A>T (p.Leu559Phe)	PLCE1 (L559F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3214470	NM_016341.4(PLCE1):c.1109G>T (p.Gly370Val)	PLCE1 (G370V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076006	NM_016341.4(PLCE1):c.1845dup (p.Gly616fs)	PLCE1 (G308fs +1 more)	Duplication (frameshift variant)	Finnish congenital nephrotic syndrome	GPathogenic
Select item 3068153	NM_016341.4(PLCE1):c.6042C>G (p.His2014Gln)	PLCE1 (H1706Q +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 3065176	NM_016341.4(PLCE1):c.6500A>G (p.Gln2167Arg)	NOC3L, PLCE1 (Q1859R +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063178	GRCh37/hg19 10q23.33(chr10:95888026-95910439)x1	PLCE1	Copy number loss	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 3061208	NM_016341.4(PLCE1):c.4264G>A (p.Val1422Ile)	PLCE1 (V1114I +2 more)	Single nucleotide variant (missense variant)	PLCE1-related condition	GUncertain significance
Select item 3058321	NM_016341.4(PLCE1):c.2769G>T (p.Leu923=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related condition	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 condition	GLikely benign
Select item 3054122	NM_016341.4(PLCE1):c.1401C>T (p.Thr467=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related condition	GLikely benign
Select item 3051180	NM_016341.4(PLCE1):c.4053+7G>A	PLCE1	Single nucleotide variant (intron variant)	PLCE1-related condition	GLikely benign
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 condition	GBenign
Select item 3048914	NM_016341.4(PLCE1):c.6874T>C (p.Leu2292=)	NOC3L, PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related condition	GLikely benign
Select item 3046851	NM_016341.4(PLCE1):c.1560G>A (p.Lys520=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related condition	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 condition	GLikely benign
Select item 3042887	NM_016341.4(PLCE1):c.1207-43013G>T	PLCE1, PLCE1-AS2 (V23L)	Single nucleotide variant (missense variant +1 more)	PLCE1-related condition	GUncertain significance
Select item 3039762	NM_016341.4(PLCE1):c.4390-6T>C	PLCE1	Single nucleotide variant (intron variant)	PLCE1-related condition	GLikely benign
Select item 3039397	NM_016341.4(PLCE1):c.1207-43013G>A	PLCE1, PLCE1-AS2 (V23M)	Single nucleotide variant (missense variant +1 more)	PLCE1-related condition	GLikely benign
Select item 3036371	NM_016341.4(PLCE1):c.1332A>G (p.Gln444=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related condition	GLikely benign
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 condition	GLikely benign
Select item 3031197	NM_016341.4(PLCE1):c.4332C>T (p.Asp1444=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related condition	GLikely benign
Select item 3030786	NM_016341.4(PLCE1):c.1260C>T (p.Leu420=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related condition	GLikely benign
Select item 3030104	NM_016341.4(PLCE1):c.3677+5A>T	PLCE1	Single nucleotide variant (intron variant)	PLCE1-related condition	GLikely benign
Select item 3029875	NM_016341.4(PLCE1):c.297G>A (p.Ala99=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related condition	GLikely benign
Select item 3018268	NM_016341.4(PLCE1):c.5517A>T (p.Val1839=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015362	NM_016341.4(PLCE1):c.3081C>T (p.Tyr1027=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009390	NM_016341.4(PLCE1):c.909C>T (p.Phe303=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004254	NM_016341.4(PLCE1):c.6449del (p.Arg2150fs)	NOC3L, PLCE1 (R1842fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2986798	NM_016341.4(PLCE1):c.6568T>C (p.Leu2190=)	NOC3L, PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983203	NM_016341.4(PLCE1):c.2215-6T>G	PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970639	NM_016341.4(PLCE1):c.3771C>T (p.Asn1257=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966053	NM_016341.4(PLCE1):c.3555-8T>C	PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965037	NM_016341.4(PLCE1):c.5459-12T>C	PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961965	NM_016341.4(PLCE1):c.6342+20G>A	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2961713	NM_016341.4(PLCE1):c.5622+19G>A	PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960682	NM_016341.4(PLCE1):c.1941C>T (p.Phe647=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959084	NM_016341.4(PLCE1):c.3892A>G (p.Ile1298Val)	PLCE1 (I1298V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2955405	NM_016341.4(PLCE1):c.6825C>G (p.Leu2275=)	NOC3L, PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920408	NM_016341.4(PLCE1):c.282C>T (p.Ile94=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909408	NM_016341.4(PLCE1):c.5841G>A (p.Ala1947=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907556	NM_016341.4(PLCE1):c.6404A>G (p.Glu2135Gly)	NOC3L, PLCE1 (E1827G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904319	NM_016341.4(PLCE1):c.5577A>G (p.Leu1859=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902720	NM_016341.4(PLCE1):c.3969G>C (p.Gly1323=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901453	NM_016341.4(PLCE1):c.6471C>T (p.Arg2157=)	NOC3L, PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900041	NM_016341.4(PLCE1):c.2547C>T (p.Tyr849=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892702	NM_016341.4(PLCE1):c.5458+10C>G	PLCE1	Single nucleotide variant (intron variant)	PLCE1-related condition +1 more	GLikely benign
Select item 2887795	NM_016341.4(PLCE1):c.1956-10C>T	PLCE1	Single nucleotide variant (intron variant)	PLCE1-related condition +1 more	GLikely benign
Select item 2873327	NM_016341.4(PLCE1):c.4116-11G>T	PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872887	NM_016341.4(PLCE1):c.1512T>C (p.Ser504=)	PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related condition +1 more	GLikely benign
Select item 2871860	NM_016341.4(PLCE1):c.6539G>A (p.Ser2180Asn)	NOC3L, PLCE1 (S1872N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869018	NM_016341.4(PLCE1):c.745G>A (p.Glu249Lys)	PLCE1 (E249K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864030	NM_016341.4(PLCE1):c.2301C>T (p.Val767=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2826113	NM_016341.4(PLCE1):c.6720+11_6720+12del	NOC3L, PLCE1	Deletion (intron variant)	not provided	GLikely benign
Select item 2813267	NM_016341.4(PLCE1):c.3398-10A>G	PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802015	NM_016341.4(PLCE1):c.4918-19A>G	PLCE1, PLCE1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801762	NM_016341.4(PLCE1):c.5382C>T (p.Ile1794=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796094	NM_016341.4(PLCE1):c.3516C>T (p.Ser1172=)	PLCE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2788904	NM_016341.4(PLCE1):c.1677A>G (p.Leu559=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782051	NM_016341.4(PLCE1):c.4041C>T (p.Leu1347=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779601	NM_016341.4(PLCE1):c.2421-6C>T	PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778268	NM_016341.4(PLCE1):c.1497C>T (p.Arg499=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771980	NM_016341.4(PLCE1):c.1926C>T (p.Asn642=)	PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754980	NM_016341.4(PLCE1):c.4506+14A>G	PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754787	NM_016341.4(PLCE1):c.4665+9C>T	PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745323	NM_016341.4(PLCE1):c.4704T>C (p.Asn1568=)	PLCE1, PLCE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2735459	NM_016341.4(PLCE1):c.3169C>T (p.Arg1057Ter)	PLCE1 (R749* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2716729	NM_016341.4(PLCE1):c.6681T>G (p.Gly2227=)	NOC3L, PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708226	NM_016341.4(PLCE1):c.2420+1G>A	PLCE1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2706606	NM_016341.4(PLCE1):c.4116-16A>G	PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic

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