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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +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 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 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)	not provided	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 (intron 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 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 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 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 403075	NM_003906.5(MCM3AP):c.2931T>C (p.His977=)	MCM3AP	Single nucleotide variant (synonymous variant)	not specified +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 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 +1 more	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 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 403613	NM_003906.5(MCM3AP):c.305C>T (p.Ser102Leu)	MCM3AP, YBEY (S102L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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
Select item 253347	GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3	C21orf58, COL18A1 +15 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 91