ClinVar for Gene (Select 64318) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307354	NM_016341.4(PLCE1):c.6415G>A (p.Val2139Ile)	NOC3L, PLCE1 (V1831I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307352	NM_016341.4(PLCE1):c.6226A>G (p.Arg2076Gly)	NOC3L, PLCE1 (R2060G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307348	NM_016341.4(PLCE1):c.6176A>T (p.Tyr2059Phe)	NOC3L, PLCE1 (Y1751F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300224	NM_022451.11(NOC3L):c.1427G>T (p.Arg476Leu)	NOC3L (R476L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300223	NM_022451.11(NOC3L):c.269A>C (p.Asp90Ala)	NOC3L (D90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300222	NM_022451.11(NOC3L):c.1603G>A (p.Asp535Asn)	NOC3L (D535N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300221	NM_022451.11(NOC3L):c.1024G>T (p.Ala342Ser)	NOC3L (A342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300220	NM_022451.11(NOC3L):c.1784C>T (p.Ala595Val)	NOC3L (A595V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244995	NC_000010.10:g.(?_95930917)_(96354631_?)dup	HELLS, NOC3L +2 more	Duplication	not provided	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 3200973	NM_022451.11(NOC3L):c.859A>T (p.Thr287Ser)	NOC3L (T287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200972	NM_022451.11(NOC3L):c.791A>T (p.Glu264Val)	NOC3L (E264V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200971	NM_022451.11(NOC3L):c.733G>A (p.Glu245Lys)	NOC3L (E245K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200969	NM_022451.11(NOC3L):c.712G>C (p.Glu238Gln)	NOC3L (E238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200968	NM_022451.11(NOC3L):c.636G>C (p.Gln212His)	NOC3L (Q212H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200967	NM_022451.11(NOC3L):c.623A>G (p.Lys208Arg)	NOC3L (K208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200966	NM_022451.11(NOC3L):c.52A>C (p.Lys18Gln)	NOC3L (K18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200965	NM_022451.11(NOC3L):c.319G>A (p.Val107Ile)	NOC3L (V107I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200964	NM_022451.11(NOC3L):c.314A>G (p.Gln105Arg)	NOC3L (Q105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200963	NM_022451.11(NOC3L):c.257C>G (p.Ala86Gly)	NOC3L (A86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200961	NM_022451.11(NOC3L):c.212G>A (p.Arg71Gln)	NOC3L (R71Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200960	NM_022451.11(NOC3L):c.205G>C (p.Glu69Gln)	NOC3L (E69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200959	NM_022451.11(NOC3L):c.1537C>T (p.Pro513Ser)	NOC3L (P513S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200958	NM_022451.11(NOC3L):c.1145G>A (p.Cys382Tyr)	NOC3L (C382Y)	Single nucleotide variant (missense variant)	not specified	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 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 3048914	NM_016341.4(PLCE1):c.6874T>C (p.Leu2292=)	NOC3L, PLCE1	Single nucleotide variant (synonymous variant)	PLCE1-related disorder	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 2961965	NM_016341.4(PLCE1):c.6342+20G>A	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2901453	NM_016341.4(PLCE1):c.6471C>T (p.Arg2157=)	NOC3L, PLCE1	Single nucleotide variant (synonymous variant)	not provided	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 2826113	NM_016341.4(PLCE1):c.6720+11_6720+12del	NOC3L, PLCE1	Deletion (intron variant)	not provided	GLikely benign
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 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
Select item 2618919	NM_022451.11(NOC3L):c.530A>T (p.Glu177Val)	NOC3L (E177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618918	NM_022451.11(NOC3L):c.529G>A (p.Glu177Lys)	NOC3L (E177K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597486	NM_022451.11(NOC3L):c.1873G>A (p.Ala625Thr)	NOC3L (A625T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590700	NM_022451.11(NOC3L):c.806T>C (p.Ile269Thr)	NOC3L (I269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2533564	NM_022451.11(NOC3L):c.1038G>C (p.Leu346Phe)	NOC3L (L346F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506762	NM_016341.4(PLCE1):c.6317G>A (p.Arg2106Lys)	NOC3L, PLCE1 (R1798K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2495736	NM_022451.11(NOC3L):c.2207T>C (p.Phe736Ser)	NOC3L (F736S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461736	NM_022451.11(NOC3L):c.862C>G (p.Arg288Gly)	NOC3L (R288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 2434921	NM_016341.4(PLCE1):c.6570G>C (p.Leu2190Phe)	NOC3L, PLCE1 (L1882F +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 2405306	NM_022451.11(NOC3L):c.1010G>T (p.Gly337Val)	NOC3L (G337V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391508	NM_022451.11(NOC3L):c.2221A>G (p.Met741Val)	NOC3L (M741V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387123	NM_022451.11(NOC3L):c.2186G>A (p.Arg729Gln)	NOC3L (R729Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381262	NM_022451.11(NOC3L):c.385C>T (p.Arg129Cys)	NOC3L (R129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372458	NM_016341.4(PLCE1):c.6752C>A (p.Ser2251Tyr)	NOC3L, PLCE1 (S2251Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325469	NM_022451.11(NOC3L):c.41G>T (p.Arg14Leu)	NOC3L (R14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319610	NM_022451.11(NOC3L):c.1477G>C (p.Glu493Gln)	NOC3L (E493Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306037	NM_022451.11(NOC3L):c.2023C>A (p.Pro675Thr)	NOC3L (P675T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304341	NM_022451.11(NOC3L):c.1777G>A (p.Ala593Thr)	NOC3L (A593T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302331	NM_016341.4(PLCE1):c.6250A>G (p.Ile2084Val)	NOC3L, PLCE1 (I1776V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265437	NM_022451.11(NOC3L):c.729G>C (p.Leu243Phe)	NOC3L (L243F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254883	NM_016341.4(PLCE1):c.6713A>C (p.Gln2238Pro)	NOC3L, PLCE1 (Q1930P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226480	NM_022451.11(NOC3L):c.2342G>A (p.Ser781Asn)	NOC3L (S781N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220542	NM_022451.11(NOC3L):c.724A>G (p.Met242Val)	NOC3L (M242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218666	NM_022451.11(NOC3L):c.2068C>A (p.Leu690Met)	NOC3L (L690M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214666	NM_022451.11(NOC3L):c.2192C>T (p.Ser731Phe)	NOC3L (S731F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213739	NM_022451.11(NOC3L):c.527A>G (p.Asp176Gly)	NOC3L (D176G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208459	NM_022451.11(NOC3L):c.266T>C (p.Leu89Ser)	NOC3L (L89S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2183468	NM_016341.4(PLCE1):c.6761G>A (p.Ser2254Asn)	NOC3L, PLCE1 (S2238N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2110750	NM_016341.4(PLCE1):c.6696C>G (p.Ile2232Met)	NOC3L, PLCE1 (I2216M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081623	NM_016341.4(PLCE1):c.6172G>A (p.Asp2058Asn)	NOC3L, PLCE1 (D2042N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078556	NM_016341.4(PLCE1):c.6206C>G (p.Ser2069Cys)	NOC3L, PLCE1 (S2053C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2071204	NM_016341.4(PLCE1):c.6826T>C (p.Leu2276=)	NOC3L, PLCE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068091	NM_016341.4(PLCE1):c.6348A>G (p.Leu2116=)	PLCE1, NOC3L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2060956	NM_016341.4(PLCE1):c.6556G>A (p.Asp2186Asn)	PLCE1, NOC3L (D2186N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939463	NM_016341.4(PLCE1):c.6720+11A>G	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706910	NM_016341.4(PLCE1):c.6133-54G>T	PLCE1, NOC3L	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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
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 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
Select item 1324930	NM_016341.4(PLCE1):c.6901C>T (p.Arg2301Ter)	NOC3L, PLCE1 (R1993* +2 more)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 3	GLikely pathogenic
Select item 1289466	NM_016341.4(PLCE1):c.6343-255dup	NOC3L, PLCE1	Duplication (intron variant)	not provided	GBenign
Select item 1289114	NM_016341.4(PLCE1):c.6720+31T>A	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281283	NM_016341.4(PLCE1):c.6343-255del	NOC3L, PLCE1	Deletion (intron variant)	not provided	GBenign
Select item 1280371	NM_016341.4(PLCE1):c.6343-201T>G	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259281	NM_016341.4(PLCE1):c.6502-186G>A	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254109	NM_016341.4(PLCE1):c.6720+49dup	NOC3L, PLCE1	Duplication (intron variant)	Nephrotic syndrome, type 3 +2 more	GBenign
Select item 1253686	NM_016341.4(PLCE1):c.6721-53C>G	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231076	NM_016341.4(PLCE1):c.6721-64G>A	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212312	NM_016341.4(PLCE1):c.6342+69C>T	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210221	NM_016341.4(PLCE1):c.6640G>A (p.Asp2214Asn)	PLCE1, NOC3L (D1906N +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1203717	NM_016341.4(PLCE1):c.*24+181T>C	NOC3L, PLCE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1071041	NM_016341.4(PLCE1):c.6742_6745del (p.Lys2248fs)	NOC3L, PLCE1 (K1940fs +2 more)	Microsatellite (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 988203	NM_016341.4(PLCE1):c.6821A>G (p.Gln2274Arg)	PLCE1, NOC3L (Q1966R +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GUncertain significance
Select item 879458	NM_016341.4(PLCE1):c.*232A>G	NOC3L, PLCE1	Single nucleotide variant (3 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 879457	NM_016341.4(PLCE1):c.*196A>C	NOC3L, PLCE1	Single nucleotide variant (3 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance

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