"GeneDx"[submitter] AND "EPG5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59960	GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1	ARK2C, ARK2N +119 more	Copy number loss	See cases	GPathogenic
Select item 152556	GRCh38/hg38 18q12.3-21.1(chr18:43833480-46144138)x1	LINC01601, LOC110121352 +55 more	Copy number loss	See cases	GPathogenic
Select item 58781	GRCh38/hg38 18q12.3-21.1(chr18:45541699-46697357)x3	ARK2C, ARK2N +35 more	Copy number gain	See cases	GPathogenic
Select item 1247677	NM_213602.3(SIGLEC15):c.817T>C (p.Phe273Leu)	SIGLEC15, EPG5 (F273L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1190961	NM_020964.3(EPG5):c.*270G>A	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1223957	NM_020964.3(EPG5):c.*163GT[14]	EPG5	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1221331	NM_020964.3(EPG5):c.*163GT[15]	EPG5	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1181353	NM_020964.3(EPG5):c.*163GT[13]	EPG5	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1212265	NM_020964.3(EPG5):c.*163GT[11]	EPG5	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1708713	NM_020964.3(EPG5):c.*166T>G	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1325952	NM_020964.3(EPG5):c.*164T>G	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1253000	NM_020964.3(EPG5):c.*140G>A	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1261570	NM_020964.3(EPG5):c.*74T>G	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1189712	NM_020964.3(EPG5):c.7736G>A (p.Arg2579Gln)	EPG5 (R2579Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 402831	NM_020964.3(EPG5):c.7558-11G>A	EPG5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1691577	NM_020964.3(EPG5):c.7558-132C>T	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225996	NM_020964.3(EPG5):c.7558-205C>T	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 445923	NM_020964.3(EPG5):c.7557+15T>C	EPG5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 534604	NM_020964.3(EPG5):c.7495A>G (p.Met2499Val)	EPG5 (M2499V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1170633	NM_020964.3(EPG5):c.7443-14C>T	EPG5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1293084	NM_020964.3(EPG5):c.7443-86T>G	EPG5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1214750	NM_020964.3(EPG5):c.7442+192T>C	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215428	NM_020964.3(EPG5):c.7442+93G>A	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1810659	NM_020964.3(EPG5):c.7427C>T (p.Ser2476Leu)	EPG5 (S2475L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1293082	NM_020964.3(EPG5):c.7227-123G>A	EPG5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1293408	NM_020964.3(EPG5):c.7227-128C>G	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213576	NM_020964.3(EPG5):c.7226+95A>T	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261649	NM_020964.3(EPG5):c.7010-100dup	EPG5	Duplication (intron variant)	not provided	GBenign
Select item 1204339	NM_020964.3(EPG5):c.7009+169_7009+170del	EPG5	Deletion (intron variant)	not provided	GLikely benign
Select item 1196890	NM_020964.3(EPG5):c.7009+167A>C	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392190	NM_020964.3(EPG5):c.6871A>G (p.Ser2291Gly)	EPG5 (S2291G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1052914	NM_020964.3(EPG5):c.6825G>A (p.Met2275Ile)	EPG5 (M2275I)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 534595	NM_020964.3(EPG5):c.6792G>T (p.Met2264Ile)	EPG5 (M2264I)	Single nucleotide variant (missense variant)	Vici syndrome +2 more	GUncertain significance
Select item 1274938	NM_020964.3(EPG5):c.6767-255_6767-252del	EPG5	Deletion (intron variant)	not provided	GBenign
Select item 1240699	NM_020964.3(EPG5):c.6766+322C>T	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245050	NM_020964.3(EPG5):c.6766+238G>A	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1127228	NM_020964.3(EPG5):c.6622-23_6622-12dup	EPG5	Duplication (intron variant)	not provided +1 more	GLikely benign
Select item 1107893	NM_020964.3(EPG5):c.6622-23_6622-13dup	EPG5	Duplication (intron variant)	Vici syndrome +1 more	GLikely benign
Select item 769442	NM_020964.3(EPG5):c.6622-23dup	EPG5	Duplication (intron variant)	not provided +1 more	GBenign
Select item 720019	NM_020964.3(EPG5):c.6622-23_6622-18dup	EPG5	Duplication (intron variant)	not provided	GLikely benign
Select item 402832	NM_020964.3(EPG5):c.6622-7del	EPG5	Deletion (intron variant)	not specified +2 more	GBenign
Select item 1245720	NM_020964.3(EPG5):c.6622-92C>G	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288965	NM_020964.3(EPG5):c.6621+257A>G	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255386	NM_020964.3(EPG5):c.6621+29A>G	EPG5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1305775	NM_020964.3(EPG5):c.6621+1G>A	EPG5	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 534617	NM_020964.3(EPG5):c.6516C>T (p.Tyr2172=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome +1 more	GBenign
Select item 643871	NM_020964.3(EPG5):c.6512A>G (p.His2171Arg)	EPG5 (H2171R)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 1292757	NM_020964.3(EPG5):c.6412-250G>A	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198807	NM_020964.3(EPG5):c.6411+24A>G	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 639611	NM_020964.3(EPG5):c.6403G>A (p.Asp2135Asn)	EPG5 (D2135N)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 1055170	NM_020964.3(EPG5):c.6253T>C (p.Phe2085Leu)	EPG5 (F2085L)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 39984	NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter)	EPG5 (R2078*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1252527	NM_020964.3(EPG5):c.6225+181A>G	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203283	NM_020964.3(EPG5):c.6225+174C>T	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1810534	NM_020964.3(EPG5):c.6187C>G (p.Leu2063Val)	EPG5 (L2062V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392189	NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp)	EPG5 (R2056W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 466261	NM_020964.3(EPG5):c.6161C>T (p.Thr2054Met)	EPG5 (T2054M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2507089	NM_020964.3(EPG5):c.6088C>T (p.His2030Tyr)	EPG5 (H2029Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1242967	NM_020964.3(EPG5):c.6050-63dup	EPG5	Duplication (intron variant)	not provided	GBenign
Select item 1206513	NM_020964.3(EPG5):c.6050-63_6050-61dup	EPG5	Duplication (intron variant)	not provided	GLikely benign
Select item 1202412	NM_020964.3(EPG5):c.6050-63_6050-62dup	EPG5	Duplication (intron variant)	not provided	GLikely benign
Select item 1293413	NM_020964.3(EPG5):c.6050-48_6050-47del	EPG5	Deletion (intron variant)	not provided	GBenign
Select item 1237707	NM_020964.3(EPG5):c.6050-47del	EPG5	Deletion (intron variant)	not provided	GBenign
Select item 1215295	NM_020964.3(EPG5):c.6049+244C>G	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292861	NM_020964.3(EPG5):c.6049+126G>A	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 451769	NM_020964.3(EPG5):c.6037G>A (p.Glu2013Lys)	EPG5 (E2013K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 421586	NM_020964.3(EPG5):c.6020_6021del (p.Cys2007fs)	EPG5 (C2007fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1187521	NM_020964.3(EPG5):c.6011T>C (p.Phe2004Ser)	EPG5 (F2004S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 466260	NM_020964.3(EPG5):c.5954G>A (p.Arg1985Gln)	EPG5 (R1985Q)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GBenign/Likely benign
Select item 1286074	NM_020964.3(EPG5):c.5943-204T>G	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178772	NM_020964.3(EPG5):c.5943-246A>G	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 534602	NM_020964.3(EPG5):c.5937C>A (p.Asn1979Lys)	EPG5 (N1979K)	Single nucleotide variant (missense variant)	Vici syndrome +2 more	GUncertain significance
Select item 1218874	NM_020964.3(EPG5):c.5870-57C>T	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292748	NM_020964.3(EPG5):c.5870-172G>A	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194955	NM_020964.3(EPG5):c.5870-272G>A	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175160	NM_020964.3(EPG5):c.5869+1G>A	EPG5	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 453075	NM_020964.3(EPG5):c.5713C>T (p.Arg1905Trp)	EPG5 (R1905W)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GConflicting classifications of pathogenicity
Select item 466259	NM_020964.3(EPG5):c.5700T>C (p.Phe1900=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome +1 more	GBenign
Select item 1267121	NM_020964.3(EPG5):c.5668-184A>G	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288411	NM_020964.3(EPG5):c.5668-302G>C	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 466257	NM_020964.3(EPG5):c.5591G>A (p.Ser1864Asn)	EPG5 (S1864N)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GBenign
Select item 1004938	NM_020964.3(EPG5):c.5584G>T (p.Ala1862Ser)	EPG5 (A1862S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 466255	NM_020964.3(EPG5):c.5583C>T (p.Cys1861=)	EPG5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 452021	NM_020964.3(EPG5):c.5375_5378dup (p.Leu1794fs)	EPG5 (L1794fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2573836	NM_020964.3(EPG5):c.5351_5354del (p.Asp1784fs)	EPG5 (D1784fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2880609	NM_020964.3(EPG5):c.5353C>T (p.Arg1785Cys)	EPG5 (R1785C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 466254	NM_020964.3(EPG5):c.5229C>T (p.Phe1743=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome +1 more	GBenign
Select item 838602	NM_020964.3(EPG5):c.5146G>A (p.Val1716Ile)	EPG5 (V1716I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1273740	NM_020964.3(EPG5):c.5110-249G>A	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290144	NM_020964.3(EPG5):c.5109+232C>G	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1415338	NM_020964.3(EPG5):c.5057G>A (p.Arg1686His)	EPG5 (R1686H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 504279	NM_020964.3(EPG5):c.4956del (p.Ala1652_Leu1653insTer)	EPG5	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1211497	NM_020964.3(EPG5):c.4953-201A>G	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236000	NM_020964.3(EPG5):c.4952+184C>G	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707952	NM_020964.3(EPG5):c.4853A>G (p.His1618Arg)	EPG5 (H1618R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1198700	NM_020964.3(EPG5):c.4810-229G>A	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269941	NM_020964.3(EPG5):c.4809+305A>G	EPG5, LOC126862736	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211205	NM_020964.3(EPG5):c.4809+65A>G	EPG5, LOC126862736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1305360	NM_020964.3(EPG5):c.4775A>G (p.Lys1592Arg)	EPG5 (K1592R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450105	NM_020964.3(EPG5):c.4740del (p.Thr1581fs)	EPG5 (T1581fs)	Deletion (frameshift variant)	not provided	GPathogenic

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