"GeneDx"[submitter] AND "MCM2"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1316005	NM_004526.4(MCM2):c.15G>A (p.Ser5=)	MCM2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 736578	NM_004526.4(MCM2):c.98G>A (p.Arg33Gln)	MCM2 (R33Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1254967	NM_004526.4(MCM2):c.126T>C (p.Pro42=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 668396	NM_004526.4(MCM2):c.144A>G (p.Pro48=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1342828	NM_004526.4(MCM2):c.159C>T (p.Ser53=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	MCM2-related disorder +1 more	GLikely benign
Select item 678700	NM_004526.4(MCM2):c.204T>G (p.Asp68Glu)	MCM2 (D68E)	Single nucleotide variant (missense variant +1 more)	MCM2-related disorder +1 more	GBenign
Select item 1239598	NM_004526.4(MCM2):c.236+231C>G	MCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680892	NM_004526.4(MCM2):c.318G>A (p.Thr106=)	MCM2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 508629	NM_004526.4(MCM2):c.378G>A (p.Arg126=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1280641	NM_004526.4(MCM2):c.398G>A (p.Arg133His)	MCM2 (R133H)	Single nucleotide variant (missense variant +1 more)	MCM2-related disorder +1 more	GBenign/Likely benign
Select item 1317687	NM_004526.4(MCM2):c.403C>T (p.Leu135Phe)	MCM2 (L135F)	Single nucleotide variant (missense variant +1 more)	MCM2-related disorder +1 more	GLikely benign
Select item 1320600	NM_004526.4(MCM2):c.412+9A>G	MCM2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1318182	NM_004526.4(MCM2):c.413-29G>A	MCM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526340	NM_004526.4(MCM2):c.413-22C>T	MCM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231293	NM_004526.4(MCM2):c.413-20G>A	MCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316816	NM_004526.4(MCM2):c.449A>G (p.Lys150Arg)	MCM2 (K150R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 512352	NM_004526.4(MCM2):c.480C>T (p.Asp160=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 668366	NM_004526.4(MCM2):c.490_498dup (p.Asp164_Glu166dup)	MCM2	Duplication (inframe_insertion +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 508098	NM_004526.4(MCM2):c.504C>T (p.Ile168=)	MCM2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 1315680	NM_004526.4(MCM2):c.579G>A (p.Leu193=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 717201	NM_004526.4(MCM2):c.674-8C>G	MCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509129	NM_004526.4(MCM2):c.674-6T>C	MCM2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 684165	NM_004526.4(MCM2):c.759G>A (p.Ala253=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 512043	NM_004526.4(MCM2):c.786T>C (p.Ala262=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1175519	NM_004526.4(MCM2):c.822C>T (p.Tyr274=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1317139	NM_004526.4(MCM2):c.934G>C (p.Val312Leu)	MCM2 (V312L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 682256	NM_004526.4(MCM2):c.1092C>G (p.Asn364Lys)	MCM2 (N364K)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1317315	NM_004526.4(MCM2):c.1102-5C>T	MCM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508564	NM_004526.4(MCM2):c.1186G>A (p.Ala396Thr)	MCM2 (A396T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1318279	NM_004526.4(MCM2):c.1197C>T (p.Leu399=)	MCM2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 546188	NM_004526.4(MCM2):c.1289A>T (p.Asn430Ile)	MCM2 (N430I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1316205	NM_004526.4(MCM2):c.1371C>G (p.Thr457=)	MCM2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 514697	NM_004526.4(MCM2):c.1404C>G (p.Ser468=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	MCM2-related disorder +1 more	GBenign/Likely benign
Select item 1281330	NM_004526.4(MCM2):c.1429-107G>A	MCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680322	NM_004526.4(MCM2):c.1454T>C (p.Ile485Thr)	MCM2 (I485T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 508702	NM_004526.4(MCM2):c.1501G>A (p.Gly501Arg)	MCM2 (G501R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 730292	NM_004526.4(MCM2):c.1560C>T (p.Leu520=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1317066	NM_004526.4(MCM2):c.1590G>A (p.Ser530=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1318187	NM_004526.4(MCM2):c.1653G>A (p.Ala551=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 747011	NM_004526.4(MCM2):c.1656G>A (p.Ser552=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	MCM2-related disorder +1 more	GBenign/Likely benign
Select item 1317954	NM_004526.4(MCM2):c.1773+12G>A	MCM2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1328753	NM_004526.4(MCM2):c.1900+50C>G	MCM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316491	NM_004526.4(MCM2):c.1901-199T>C	MCM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242968	NM_004526.4(MCM2):c.1901-26G>C	MCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489243	NM_004526.4(MCM2):c.1901-1G>C	MCM2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1317731	NM_004526.4(MCM2):c.1911C>T (p.Tyr637=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 668433	NM_004526.4(MCM2):c.1920G>A (p.Ser640=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 712508	NM_004526.4(MCM2):c.1986G>A (p.Val662=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1272571	NM_004526.4(MCM2):c.1998C>T (p.Thr666=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 683349	NM_004526.4(MCM2):c.1999G>A (p.Val667Met)	MCM2 (V667M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1317287	NM_004526.4(MCM2):c.2004C>T (p.Asp668=)	MCM2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 508099	NM_004526.4(MCM2):c.2013+10A>G	MCM2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1316815	NM_004526.4(MCM2):c.2013+19C>T	MCM2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1289401	NM_004526.4(MCM2):c.2014-128G>A	MCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682511	NM_004526.4(MCM2):c.2088G>A (p.Leu696=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1266350	NM_004526.4(MCM2):c.2102C>T (p.Ala701Val)	MCM2 (A701V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1317810	NM_004526.4(MCM2):c.2127G>A (p.Thr709=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	MCM2-related disorder +1 more	GLikely benign
Select item 684166	NM_004526.4(MCM2):c.2179G>A (p.Ala727Thr)	MCM2 (A727T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1316603	NM_004526.4(MCM2):c.2266-36T>C	MCM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508631	NM_004526.4(MCM2):c.2370C>T (p.Asp790=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	MCM2-related disorder +2 more	GBenign
Select item 1317566	NM_004526.4(MCM2):c.2379G>A (p.Met793Ile)	MCM2 (M793I)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1317673	NM_004526.4(MCM2):c.2428G>A (p.Val810Ile)	MCM2 (V810I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1318439	NM_004526.4(MCM2):c.2435G>A (p.Arg812His)	MCM2 (R812H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1318065	NM_004526.4(MCM2):c.2448+14G>A	MCM2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 681874	NM_004526.4(MCM2):c.2523A>G (p.Ala841=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 678974	NM_004526.4(MCM2):c.2556G>A (p.Gly852=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	MCM2-related disorder +1 more	GBenign/Likely benign
Select item 1317572	NM_004526.4(MCM2):c.2570C>T (p.Thr857Ile)	MCM2 (T857I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1317300	NM_004526.4(MCM2):c.2586G>A (p.Glu862=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1317443	NM_004526.4(MCM2):c.2604+9C>T	MCM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316718	NM_004526.4(MCM2):c.2604+10C>T	MCM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513651	NM_004526.4(MCM2):c.2682C>T (p.Asp894=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 785865	NM_004526.4(MCM2):c.2689A>C (p.Arg897=)	MCM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign

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Items: 72