Related gene-specific medical variations for Gene (Select 64318) - ClinVar

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Items: 75

	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 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 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 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 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 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 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 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 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 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)	NOC3L, PLCE1 (P1980T +2 more)	Single nucleotide variant (missense variant)	not provided +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 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	GPathogenic
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
Select item 877994	NM_016341.4(PLCE1):c.*5G>C	NOC3L, PLCE1	Single nucleotide variant (3 prime UTR variant)	Nephrotic syndrome, type 3 +1 more	GUncertain significance
Select item 877993	NM_016341.4(PLCE1):c.6691T>C (p.Phe2231Leu)	NOC3L, PLCE1 (F2231L +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 877992	NM_016341.4(PLCE1):c.6446C>T (p.Pro2149Leu)	NOC3L, PLCE1 (P1841L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877834	NM_016341.4(PLCE1):c.6310A>C (p.Met2104Leu)	NOC3L, PLCE1 (M2104L +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 877833	NM_016341.4(PLCE1):c.6155T>A (p.Ile2052Asn)	NOC3L, PLCE1 (I1744N +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 800752	NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr)	NOC3L, PLCE1 (A1945T +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 631642	NM_016341.4(PLCE1):c.6377_6378del (p.Lys2126fs)	NOC3L, PLCE1 (K1818fs +2 more)	Deletion (frameshift variant)	Nephrotic syndrome, type 3 +1 more	GConflicting classifications of pathogenicity
Select item 448044	NM_016341.4(PLCE1):c.6853GAG[1] (p.Glu2286del)	NOC3L, PLCE1 (E2286del +2 more)	Microsatellite (inframe_deletion)	Nephrotic syndrome, type 3 +2 more	GConflicting classifications of pathogenicity
Select item 448043	NM_016341.4(PLCE1):c.6481G>A (p.Ala2161Thr)	NOC3L, PLCE1 (A2161T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 426425	NM_016341.4(PLCE1):c.6518A>G (p.Lys2173Arg)	NOC3L, PLCE1 (K2173R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 301742	NM_016341.4(PLCE1):c.*390A>G	NOC3L, PLCE1	Single nucleotide variant (3 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301741	NM_016341.4(PLCE1):c.*268T>C	NOC3L, PLCE1	Single nucleotide variant (3 prime UTR variant)	Nephrotic syndrome, type 3	GLikely benign
Select item 301740	NM_016341.4(PLCE1):c.*253C>T	NOC3L, PLCE1	Single nucleotide variant (3 prime UTR variant)	Nephrotic syndrome, type 3 +1 more	GBenign
Select item 301739	NM_016341.4(PLCE1):c.*220T>G	NOC3L, PLCE1	Single nucleotide variant (3 prime UTR variant)	Nephrotic syndrome, type 3	GLikely benign
Select item 301738	NM_016341.4(PLCE1):c.*219C>G	NOC3L, PLCE1	Single nucleotide variant (3 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301737	NM_016341.4(PLCE1):c.*166G>C	NOC3L, PLCE1	Single nucleotide variant (3 prime UTR variant)	Nephrotic syndrome, type 3 +2 more	GBenign
Select item 301736	NM_016341.4(PLCE1):c.*116T>C	NOC3L, PLCE1	Single nucleotide variant (3 prime UTR variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301735	NM_016341.4(PLCE1):c.*28A>G	NOC3L, PLCE1	Single nucleotide variant (3 prime UTR variant)	Nephrotic syndrome, type 3 +1 more	GBenign
Select item 301734	NM_016341.4(PLCE1):c.6720+10A>G	NOC3L, PLCE1	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 301733	NM_016341.4(PLCE1):c.6364G>A (p.Val2122Ile)	NOC3L, PLCE1 (V2122I +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3	GUncertain significance
Select item 267283	NM_016341.4(PLCE1):c.6800G>A (p.Arg2267Gln)	NOC3L, PLCE1 (R2267Q +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 3 +2 more	GUncertain significance
Select item 266012	NM_016341.3(PLCE1):c.[6093T>C;6800G>A]	NOC3L, PLCE1 (R2267Q +2 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 3	GUncertain significance
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 260730	NM_016341.4(PLCE1):c.6342+13G>A	NOC3L, PLCE1	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 3 +2 more	GBenign
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 18422	NM_016341.4(PLCE1):c.6448C>T (p.Arg2150Ter)	NOC3L, PLCE1 (R2150* +2 more)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 3	GPathogenic

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Items: 75