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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 60122	GRCh38/hg38 3q25.2(chr3:154843789-155242564)x1	LINC01487, LOC121725159 +4 more	Copy number loss	See cases	GUncertain significance
Select item 60123	GRCh38/hg38 3q25.2-25.31(chr3:154870557-155444826)x1	LINC01487, LOC121725159 +6 more	Copy number loss	See cases	GUncertain significance
Select item 1203738	NM_007289.4(MME):c.-10-312C>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258480	NM_007289.4(MME):c.-10-210A>G	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279010	NM_007289.4(MME):c.-10-115G>A	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193895	NM_007289.4(MME):c.-10-17A>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 426601	NM_007289.4(MME):c.-10-1G>T	MME	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1221640	NM_007289.4(MME):c.22A>G (p.Met8Val)	MME (M8V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1305169	NM_007289.4(MME):c.47C>A (p.Pro16Gln)	MME (P16Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1220354	NM_007289.4(MME):c.68G>A (p.Arg23Gln)	MME (R23Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509433	NM_007289.4(MME):c.139G>A (p.Ala47Thr)	MME (A47T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512273	NM_007289.4(MME):c.157G>A (p.Asp53Asn)	MME (D53N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1190045	NM_007289.4(MME):c.160+13C>T	MME	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1196286	NM_007289.4(MME):c.160+15C>T	MME	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1252689	NM_007289.4(MME):c.161-106T>G	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201577	NM_007289.4(MME):c.161-11C>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249724	NM_007289.4(MME):c.196+37T>C	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218443	NM_007289.4(MME):c.196+133T>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212147	NM_007289.4(MME):c.197-104G>A	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239945	NM_007289.4(MME):c.197-15T>G	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 851617	NM_007289.4(MME):c.202C>T (p.Arg68Ter)	MME (R68*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1193349	NM_007289.4(MME):c.239G>A (p.Cys80Tyr)	MME (C80Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1700953	NM_007289.4(MME):c.265G>A (p.Gly89Arg)	MME (G89R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201575	NM_007289.4(MME):c.311A>G (p.Tyr104Cys)	MME (Y104C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1228991	NM_007289.4(MME):c.358+84_358+90del	MME	Deletion (intron variant)	not provided	GBenign
Select item 1234292	NM_007289.4(MME):c.358+265TTTG[4]	MME	Microsatellite (intron variant)	not provided	GBenign
Select item 1287482	NM_007289.4(MME):c.358+274T>C	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252209	NM_007289.4(MME):c.359-269dup	MME	Duplication (intron variant)	not provided	GBenign
Select item 1244156	NM_007289.4(MME):c.359-269del	MME	Deletion (intron variant)	not provided	GBenign
Select item 1341651	NM_007289.4(MME):c.359-40G>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 510893	NM_007289.4(MME):c.359-3C>T	MME	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1296607	NM_007289.4(MME):c.439+32TA[12]	MME	Microsatellite (intron variant)	not provided	GBenign
Select item 1284113	NM_007289.4(MME):c.439+32TA[14]	MME	Microsatellite (intron variant)	not provided	GBenign
Select item 1268533	NM_007289.4(MME):c.439+32TA[9]	MME	Microsatellite (intron variant)	not provided	GBenign
Select item 1180133	NM_007289.4(MME):c.439+32TA[13]	MME	Microsatellite (intron variant)	not provided	GBenign
Select item 431858	NM_007289.4(MME):c.440-2A>C	MME	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease axonal type 2T +1 more	GPathogenic/Likely pathogenic
Select item 1306124	NM_007289.4(MME):c.445A>G (p.Ile149Val)	MME (I149V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 426945	NM_007289.4(MME):c.467del (p.Pro156fs)	MME (P156fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2T +3 more	GPathogenic/Likely pathogenic
Select item 818075	NM_007289.4(MME):c.531del (p.Lys177fs)	MME (K177fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1212125	NM_007289.4(MME):c.655-186G>A	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250397	NM_007289.4(MME):c.655-153A>T	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188355	NM_007289.4(MME):c.655-121T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 718611	NM_007289.4(MME):c.674G>C (p.Gly225Ala)	MME (G225A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1329740	NM_007289.4(MME):c.695A>G (p.Tyr232Cys)	MME (Y232C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211879	NM_007289.4(MME):c.720+130T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221714	NM_007289.4(MME):c.721-282T>C	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227188	NM_007289.4(MME):c.721-166_721-163del	MME	Deletion (intron variant)	not provided	GBenign
Select item 716853	NM_007289.4(MME):c.786G>A (p.Leu262=)	MME	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1503777	NM_007289.4(MME):c.854A>G (p.Asn285Ser)	MME (N285S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 783315	NM_007289.4(MME):c.855+6A>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198107	NM_007289.4(MME):c.855+43C>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268804	NM_007289.4(MME):c.856-83C>T	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308058	NM_007289.4(MME):c.860C>T (p.Thr287Met)	MME (T287M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451188	NM_007289.4(MME):c.877C>T (p.Arg293Ter)	MME (R293*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1303958	NM_007289.4(MME):c.920A>G (p.Gln307Arg)	MME (Q307R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365408	NM_007289.4(MME):c.941T>C (p.Leu314Pro)	MME (L314P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803627	NM_007289.4(MME):c.949A>G (p.Asn317Asp)	MME (N317D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267740	NM_007289.4(MME):c.957+77C>T	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243693	NM_007289.4(MME):c.957+141_957+142dup	MME	Duplication (intron variant)	not provided	GBenign
Select item 1236348	NM_007289.4(MME):c.957+142dup	MME	Duplication (intron variant)	not provided	GBenign
Select item 1289675	NM_007289.4(MME):c.957+141_957+142del	MME	Deletion (intron variant)	not provided	GBenign
Select item 1234176	NM_007289.4(MME):c.957+142del	MME	Deletion (intron variant)	not provided	GBenign
Select item 1217806	NM_007289.4(MME):c.957+200C>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235365	NM_007289.4(MME):c.957+335C>T	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226057	NM_007289.4(MME):c.958-199G>A	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226701	NM_007289.4(MME):c.958-130C>G	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202840	NM_007289.4(MME):c.958-78C>A	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315192	NM_007289.4(MME):c.958-4_958-3delinsG	MME	Indel (intron variant)	not provided	GUncertain significance
Select item 493377	NM_007289.4(MME):c.1033G>A (p.Val345Ile)	MME (V345I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 809558	NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)	MME (Y347C)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 716854	NM_007289.4(MME):c.1047A>G (p.Pro349=)	MME	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3369364	NM_007289.4(MME):c.1057A>G (p.Thr353Ala)	MME (T353A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353283	NM_007289.4(MME):c.1148T>G (p.Leu383Arg)	MME (L383R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507123	NM_007289.4(MME):c.1175A>G (p.Asn392Ser)	MME (N392S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343832	NM_007289.4(MME):c.1184G>A (p.Arg395His)	MME (R395H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256777	NM_007289.4(MME):c.1189-324A>G	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214665	NM_007289.4(MME):c.1189-280A>G	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 712514	NM_007289.4(MME):c.1191C>T (p.Ala397=)	MME	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 775918	NM_007289.4(MME):c.1255A>C (p.Met419Leu)	MME (M419L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 265744	NM_007289.4(MME):c.1265C>A (p.Ala422Asp)	MME (A422D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675246	NM_007289.4(MME):c.1318-110G>A	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504903	NM_007289.4(MME):c.1342C>T (p.Arg448Ter)	MME (R448*)	Single nucleotide variant (nonsense)	Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization +2 more	GPathogenic
Select item 1700814	NM_007289.4(MME):c.1415A>T (p.Lys472Met)	MME (K472M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264196	NM_007289.4(MME):c.1416+144T>A	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189955	NM_007289.4(MME):c.1417-186T>C	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1306225	NM_007289.4(MME):c.1445A>C (p.Tyr482Ser)	MME (Y482S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379140	NM_007289.4(MME):c.1495G>A (p.Glu499Lys)	MME (E499K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432802	NM_007289.4(MME):c.1497+1G>C	MME	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1198847	NM_007289.4(MME):c.1498-330C>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1309408	NM_007289.4(MME):c.1499T>C (p.Leu500Ser)	MME (L500S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452354	NM_007289.4(MME):c.1515T>G (p.Asp505Glu)	MME (D505E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699816	NM_007289.4(MME):c.1559G>C (p.Ser520Thr)	MME (S520T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 432777	NM_007289.4(MME):c.1564C>T (p.Gln522Ter)	MME (Q522*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 493378	NM_007289.4(MME):c.1580G>A (p.Arg527Gln)	MME (R527Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1194421	NM_007289.4(MME):c.1601+5G>A	MME	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1281918	NM_007289.4(MME):c.1601+11T>C	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272487	NM_007289.4(MME):c.1601+103A>C	MME	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207127	NM_007289.4(MME):c.1602-294C>T	MME	Single nucleotide variant (intron variant)	not provided	GLikely benign

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