"GeneDx"[submitter] AND "MCM3AP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 1228038	NC_000021.9:g.46235113A>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant	not provided	GBenign
Select item 1239260	NM_003906.5(MCM3AP):c.5785-201C>G	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289567	NM_003906.5(MCM3AP):c.5784+79G>A	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243994	NM_003906.5(MCM3AP):c.5784+31A>G	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281666	NM_003906.5(MCM3AP):c.5784+11C>A	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1349083	NM_003906.5(MCM3AP):c.5776A>G (p.Ser1926Gly)	MCM3AP, MCM3AP-AS1 (S1926G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1228261	NM_003906.5(MCM3AP):c.5634-192C>T	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1801964	NM_003906.5(MCM3AP):c.5390T>C (p.Leu1797Ser)	MCM3AP, MCM3AP-AS1 (L1797S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1279337	NM_003906.5(MCM3AP):c.5297-68dup	MCM3AP, MCM3AP-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1229239	NM_003906.5(MCM3AP):c.5297-55del	MCM3AP, MCM3AP-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1276279	NM_003906.5(MCM3AP):c.5297-68T>G	MCM3AP, MCM3AP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1285834	NM_003906.5(MCM3AP):c.5297-73G>T	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181809	NM_003906.5(MCM3AP):c.5297-75G>T	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288204	NM_003906.5(MCM3AP):c.5297-114C>T	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817401	NM_003906.5(MCM3AP):c.5278dup (p.Arg1760fs)	MCM3AP, MCM3AP-AS1 (R1760fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1306390	NM_003906.5(MCM3AP):c.5042C>G (p.Pro1681Arg)	MCM3AP, MCM3AP-AS1 (P1681R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1274597	NM_003906.5(MCM3AP):c.5038+87T>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3371927	NM_003906.5(MCM3AP):c.5038+5G>A	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1245839	NM_003906.5(MCM3AP):c.4648-9_4648-6del	MCM3AP, MCM3AP-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1469070	NM_003906.5(MCM3AP):c.4642A>G (p.Thr1548Ala)	MCM3AP, MCM3AP-AS1 (T1548A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1283617	NM_003906.5(MCM3AP):c.4550-14T>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305111	NM_003906.5(MCM3AP):c.4395G>T (p.Lys1465Asn)	MCM3AP, MCM3AP-AS1 (K1465N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224947	NM_003906.5(MCM3AP):c.4347C>A (p.Asp1449Glu)	MCM3AP, MCM3AP-AS1 (D1449E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1257722	NM_003906.5(MCM3AP):c.4290+165_4290+167dup	MCM3AP-AS1, MCM3AP	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1270864	NM_003906.5(MCM3AP):c.4290+138T>C	MCM3AP, MCM3AP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1314277	NM_003906.5(MCM3AP):c.4243C>T (p.Leu1415Phe)	MCM3AP, MCM3AP-AS1 (L1415F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2189999	NM_003906.5(MCM3AP):c.4223C>T (p.Thr1408Met)	MCM3AP-AS1, MCM3AP (T1408M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1226905	NM_003906.5(MCM3AP):c.4137-94T>C	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290157	NM_003906.5(MCM3AP):c.4137-113C>T	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265173	NM_003906.5(MCM3AP):c.4136+31C>T	LOC130066871, MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273420	NM_003906.5(MCM3AP):c.4002-20C>T	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244926	NM_003906.5(MCM3AP):c.3924C>T (p.Ser1308=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1699601	NM_003906.5(MCM3AP):c.3859A>G (p.Ile1287Val)	MCM3AP (I1287V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413181	NM_003906.5(MCM3AP):c.3839C>T (p.Ala1280Val)	MCM3AP (A1280V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 817943	NM_003906.5(MCM3AP):c.3799_3808dup (p.Val1270fs)	MCM3AP (V1270fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1290381	NM_003906.5(MCM3AP):c.3798G>A (p.Ala1266=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1294838	NM_003906.5(MCM3AP):c.3795T>C (p.Ala1265=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2067324	NM_003906.5(MCM3AP):c.3782G>T (p.Arg1261Leu)	MCM3AP (R1261L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1231594	NM_003906.5(MCM3AP):c.3735-34A>G	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264892	NM_003906.5(MCM3AP):c.3735-48T>G	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259018	NM_003906.5(MCM3AP):c.3735-101T>A	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227364	NM_003906.5(MCM3AP):c.3735-202A>G	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276330	NM_003906.5(MCM3AP):c.3734+182CA[19]	MCM3AP	Microsatellite (intron variant)	not provided	GBenign
Select item 1268525	NM_003906.5(MCM3AP):c.3734+182CA[18]	MCM3AP	Microsatellite (intron variant)	not provided	GBenign
Select item 1258913	NM_003906.5(MCM3AP):c.3734+202T>C	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267810	NM_003906.5(MCM3AP):c.3734+182CA[9]	MCM3AP	Microsatellite (intron variant)	not provided	GBenign
Select item 1226223	NM_003906.5(MCM3AP):c.3734+79T>C	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260785	NM_003906.5(MCM3AP):c.3582-103C>T	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248077	NM_003906.5(MCM3AP):c.3582-163C>G	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269152	NM_003906.5(MCM3AP):c.3467+153G>A	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241163	NM_003906.5(MCM3AP):c.3467+67A>G	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238840	NM_003906.5(MCM3AP):c.3336-182G>A	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189331	NM_003906.5(MCM3AP):c.3305C>T (p.Ala1102Val)	MCM3AP (A1102V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1257553	NM_003906.5(MCM3AP):c.3235-67A>T	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273747	NM_003906.5(MCM3AP):c.3031+52A>G	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3376071	NM_003906.5(MCM3AP):c.2929_2931delinsGAC (p.His977Asp)	MCM3AP (H977D)	Indel (missense variant)	not provided	GUncertain significance
Select item 403075	NM_003906.5(MCM3AP):c.2931T>C (p.His977=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2428984	NM_003906.5(MCM3AP):c.2914C>A (p.Pro972Thr)	MCM3AP (P972T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290931	NM_003906.5(MCM3AP):c.2790-72G>A	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281236	NM_003906.5(MCM3AP):c.2790-94A>G	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266387	NM_003906.5(MCM3AP):c.2629-88C>T	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224655	NM_003906.5(MCM3AP):c.2466-205A>G	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238168	NM_003906.5(MCM3AP):c.2465+187G>A	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248508	NM_003906.5(MCM3AP):c.2465+60A>G	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268480	NM_003906.5(MCM3AP):c.2409A>G (p.Glu803=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1375669	NM_003906.5(MCM3AP):c.2407G>A (p.Glu803Lys)	MCM3AP (E803K)	Single nucleotide variant (missense variant)	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development +1 more	GUncertain significance
Select item 3373191	NM_003906.5(MCM3AP):c.2371C>G (p.Gln791Glu)	MCM3AP (Q791E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290785	NM_003906.5(MCM3AP):c.2197-55G>A	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280595	NM_003906.5(MCM3AP):c.2197-179dup	MCM3AP	Duplication (intron variant)	not provided	GBenign
Select item 1313637	NM_003906.5(MCM3AP):c.2009C>T (p.Ala670Val)	MCM3AP (A670V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501693	NM_003906.5(MCM3AP):c.2008G>A (p.Ala670Thr)	MCM3AP (A670T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1259640	NM_003906.5(MCM3AP):c.1998+20C>T	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229610	NM_003906.5(MCM3AP):c.1878T>C (p.Asp626=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1236455	NM_003906.5(MCM3AP):c.1859-156G>C	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231373	NM_003906.5(MCM3AP):c.1859-178T>G	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235439	NM_003906.5(MCM3AP):c.1668-19T>C	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179721	NM_003906.5(MCM3AP):c.1667+51C>T	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286379	NM_003906.5(MCM3AP):c.1523-78C>T	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178925	NM_003906.5(MCM3AP):c.1444-9G>A	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275714	NM_003906.5(MCM3AP):c.1444-177G>T	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244136	NM_003906.5(MCM3AP):c.1443+62dup	MCM3AP	Duplication (intron variant)	not provided	GBenign
Select item 1240925	NM_003906.5(MCM3AP):c.1323C>T (p.Asn441=)	MCM3AP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2150447	NM_003906.5(MCM3AP):c.1289C>T (p.Ser430Phe)	MCM3AP (S430F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1376169	NM_003906.5(MCM3AP):c.1279G>C (p.Gly427Arg)	MCM3AP (G427R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320934	NM_003906.5(MCM3AP):c.1267A>G (p.Thr423Ala)	MCM3AP (T423A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1294999	NM_003906.5(MCM3AP):c.1238C>T (p.Pro413Leu)	MCM3AP (P413L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1268469	NM_003906.5(MCM3AP):c.1219+30A>G	MCM3AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309492	NM_003906.5(MCM3AP):c.710G>A (p.Gly237Glu)	MCM3AP (G237E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801965	NM_003906.5(MCM3AP):c.572C>T (p.Pro191Leu)	MCM3AP (P191L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402987	NM_003906.5(MCM3AP):c.353T>C (p.Val118Ala)	MCM3AP (V118A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 403613	NM_003906.5(MCM3AP):c.305C>T (p.Ser102Leu)	MCM3AP, YBEY (S102L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1383113	NM_003906.5(MCM3AP):c.208G>T (p.Val70Leu)	MCM3AP (V70L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1265474	NM_003906.5(MCM3AP):c.-37A>G	MCM3AP	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1277496	NC_000021.9:g.46285624dup	MCM3AP	Duplication (genic upstream transcript variant)	not provided	GBenign
Select item 1237215	NC_000021.9:g.46285623_46285624dup	MCM3AP	Duplication (genic upstream transcript variant)	not provided	GBenign
Select item 253527	GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1	ADARB1, C21orf58 +19 more	Copy number loss	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 253363	GRCh37/hg19 21q22.3(chr21:47550596-48080926)x1	C21orf58, COL6A2 +9 more	Copy number loss	See cases	GLikely pathogenic

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