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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 57893	GRCh38/hg38 4q25(chr4:109800241-109990141)x3	CFI, EGF +12 more	Copy number gain	See cases	GUncertain significance
Select item 225998	NM_001963.6(EGF):c.-382A>G	EGF	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 1317925	NM_001963.6(EGF):c.-342C>T	EGF	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 347224	NM_001963.6(EGF):c.46A>C (p.Ser16Arg)	EGF (S16R)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +1 more	GBenign/Likely benign
Select item 1320558	NM_001963.6(EGF):c.127+29G>T	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316771	NM_001963.6(EGF):c.127+107T>C	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316534	NM_001963.6(EGF):c.127+302A>G	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317851	NM_001963.6(EGF):c.128-186C>T	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287068	NM_001963.6(EGF):c.128-175G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282787	NM_001963.6(EGF):c.128-79G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347226	NM_001963.6(EGF):c.264C>T (p.Ile88=)	EGF	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 1267512	NM_001963.6(EGF):c.327+62C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347227	NM_001963.6(EGF):c.451C>T (p.His151Tyr)	EGF (H151Y)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 1272335	NM_001963.6(EGF):c.509+132G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316770	NM_001963.6(EGF):c.510-167G>A	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290696	NM_001963.6(EGF):c.510-140G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347228	NM_001963.6(EGF):c.556G>C (p.Asp186His)	EGF (D186H)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 1272784	NM_001963.6(EGF):c.737+46T>G	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317550	NM_001963.6(EGF):c.737+91G>A	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234130	NM_001963.6(EGF):c.737+141G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292009	NM_001963.6(EGF):c.737+153G>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261943	NM_001963.6(EGF):c.737+207A>G	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222566	NM_001963.6(EGF):c.737+240A>G	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286580	NM_001963.6(EGF):c.737+243A>G	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257011	NM_001963.6(EGF):c.737+260T>C	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270100	NM_001963.6(EGF):c.737+262C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251476	NM_001963.6(EGF):c.737+321T>G	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250595	NM_001963.6(EGF):c.738-51A>C	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709736	NM_001963.6(EGF):c.875T>A (p.Leu292His)	EGF (L292H)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +1 more	GBenign/Likely benign
Select item 347230	NM_001963.6(EGF):c.940+11G>A	EGF	Single nucleotide variant (intron variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 1232612	NM_001963.6(EGF):c.940+22G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249315	NM_001963.6(EGF):c.940+77C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255119	NM_001963.6(EGF):c.940+95A>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227802	NM_001963.6(EGF):c.940+151A>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234600	NM_001963.6(EGF):c.940+286G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316769	NM_001963.6(EGF):c.941-106T>C	EGF, LOC132088996	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264142	NM_001963.6(EGF):c.941-104T>C	EGF, LOC132088996	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274103	NM_001963.6(EGF):c.1066+40C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260661	NM_001963.6(EGF):c.1067-222G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237169	NM_001963.6(EGF):c.1067-82C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347232	NM_001963.6(EGF):c.1095T>C (p.His365=)	EGF	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 1316557	NM_001963.6(EGF):c.1189+216dup	EGF	Duplication (intron variant)	not provided	GLikely benign
Select item 1250717	NM_001963.6(EGF):c.1189+315G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221137	NM_001963.6(EGF):c.1189+331C>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234770	NM_001963.6(EGF):c.1190-39G>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274502	NM_001963.6(EGF):c.1190-23T>C	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347234	NM_001963.6(EGF):c.1292G>A (p.Arg431Lys)	EGF (R431K +1 more)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 1320574	NM_001963.6(EGF):c.1312+200T>G	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231801	NM_001963.6(EGF):c.1312+203C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289323	NM_001963.6(EGF):c.1313-277G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226787	NM_001963.6(EGF):c.1313-175C>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304750	NM_001963.6(EGF):c.1313-92dup	EGF	Duplication (intron variant)	not provided	GBenign
Select item 1276812	NM_001963.6(EGF):c.1313-33C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347235	NM_001963.6(EGF):c.1313-10G>T	EGF	Single nucleotide variant (intron variant)	Renal hypomagnesemia 4 +1 more	GBenign/Likely benign
Select item 1287729	NM_001963.6(EGF):c.1438+291T>C	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259803	NM_001963.6(EGF):c.1439-315A>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224598	NM_001963.6(EGF):c.1575+50A>G	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267948	NM_001963.6(EGF):c.1575+175T>C	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318445	NM_001963.6(EGF):c.1576-297ATCT[14]	EGF	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1316760	NM_001963.6(EGF):c.1576-297ATCT[10]	EGF	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1259539	NM_001963.6(EGF):c.1576-297ATCT[13]	EGF	Microsatellite (intron variant)	not provided	GBenign
Select item 1221283	NM_001963.6(EGF):c.1576-297ATCT[11]	EGF	Microsatellite (intron variant)	not provided	GBenign
Select item 1181445	NM_001963.6(EGF):c.1576-297ATCT[12]	EGF	Microsatellite (intron variant)	not provided	GBenign
Select item 1287110	NM_001963.6(EGF):c.1576-297ATCT[8]	EGF	Microsatellite (intron variant)	not provided	GBenign
Select item 1288679	NM_001963.6(EGF):c.1576-218T>C	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318180	NM_001963.6(EGF):c.1576-192T>A	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230463	NM_001963.6(EGF):c.1576-111C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316659	NM_001963.6(EGF):c.1576-84T>C	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228177	NM_001963.6(EGF):c.1576-38T>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262782	NM_001963.6(EGF):c.1576-29del	EGF	Deletion (intron variant)	not provided	GBenign
Select item 1231144	NM_001963.6(EGF):c.1724+254T>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347239	NM_001963.6(EGF):c.1725-12C>A	EGF	Single nucleotide variant (intron variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 1221383	NM_001963.6(EGF):c.1829+87A>C	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265289	NM_001963.6(EGF):c.1830-281T>G	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347241	NM_001963.6(EGF):c.1977C>T (p.Cys659=)	EGF	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 1266495	NM_001963.6(EGF):c.2053+144G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317865	NM_001963.6(EGF):c.2053+194G>A	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316536	NM_001963.6(EGF):c.2054-310A>G	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 347242	NM_001963.6(EGF):c.2073A>G (p.Ala691=)	EGF, LOC126807134	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 347245	NM_001963.6(EGF):c.2124G>A (p.Met708Ile)	EGF, LOC126807134 (M708I +1 more)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 1317433	NM_001963.6(EGF):c.2221+125G>T	EGF, LOC126807134	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317631	NM_001963.6(EGF):c.2221+279G>A	EGF, LOC126807134	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179791	NM_001963.6(EGF):c.2222-329T>C	EGF, LOC126807134	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232471	NM_001963.6(EGF):c.2222-125A>G	EGF, LOC126807134	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347246	NM_001963.6(EGF):c.2351A>T (p.Asp784Val)	EGF, LOC126807134 (D784V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1258597	NM_001963.6(EGF):c.2371+35G>A	EGF, LOC126807134	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250332	NM_001963.6(EGF):c.2372-130C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274711	NM_001963.6(EGF):c.2372-88C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221618	NM_001963.6(EGF):c.2372-76G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347247	NM_001963.6(EGF):c.2433G>A (p.Val811=)	EGF	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +1 more	GBenign/Likely benign
Select item 1271519	NM_001963.6(EGF):c.2491+276C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243754	NM_001963.6(EGF):c.2492-311A>G	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270630	NM_001963.6(EGF):c.2492-161C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255115	NM_001963.6(EGF):c.2492-19G>A	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347248	NM_001963.6(EGF):c.2525T>C (p.Met842Thr)	EGF (M842T +1 more)	Single nucleotide variant (missense variant +1 more)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 1235108	NM_001963.6(EGF):c.2608+32A>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317322	NM_001963.6(EGF):c.2608+33C>A	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272738	NM_001963.6(EGF):c.2608+73C>T	EGF	Single nucleotide variant (intron variant)	not provided	GBenign

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