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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 59120	GRCh38/hg38 9q22.32(chr9:95046229-96111163)x1	AOPEP, ERCC6L2 +52 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 367607	NM_000136.3(FANCC):c.*116A>C	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C +1 more	GBenign
Select item 913627	NM_000136.3(FANCC):c.*96A>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 255272	NM_000136.3(FANCC):c.*42G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 387109	NM_000136.3(FANCC):c.*14C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 389719	NM_000136.3(FANCC):c.*10A>C	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1216317	NM_000136.3(FANCC):c.*9C>T	FANCC, AOPEP	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1202954	NM_000136.3(FANCC):c.*8G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 377849	NM_000136.3(FANCC):c.*7C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	not specified	GConflicting classifications of pathogenicity
Select item 137286	NM_000136.3(FANCC):c.*5C>T	FANCC, AOPEP	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 565379	NM_000136.3(FANCC):c.1672G>T (p.Val558Phe)	AOPEP, FANCC (V558F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3363874	NM_000136.3(FANCC):c.1669C>A (p.Gln557Lys)	AOPEP, FANCC (Q557K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449894	NM_000136.3(FANCC):c.1664G>A (p.Arg555Gln)	AOPEP, FANCC (R555Q)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 669103	NM_000136.3(FANCC):c.1663C>A (p.Arg555=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 234905	NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	AOPEP, FANCC (R555*)	Single nucleotide variant (nonsense)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 12043	NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	AOPEP, FANCC (L554P)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 819740	NM_000136.3(FANCC):c.1660C>T (p.Leu554=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 937123	NM_000136.3(FANCC):c.1655A>G (p.Lys552Arg)	AOPEP, FANCC (K552R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1389407	NM_000136.3(FANCC):c.1654A>C (p.Lys552Gln)	AOPEP, FANCC (K552Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 182492	NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln)	AOPEP, FANCC (R548Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 12047	NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	FANCC, AOPEP (R548*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 951963	NM_000136.3(FANCC):c.1636C>G (p.Leu546Val)	AOPEP, FANCC (L546V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 234672	NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg)	AOPEP, FANCC (K545R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +3 more	GConflicting classifications of pathogenicity
Select item 419421	NM_000136.3(FANCC):c.1633A>C (p.Lys545Gln)	AOPEP, FANCC (K545Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418879	NM_000136.3(FANCC):c.1633A>G (p.Lys545Glu)	AOPEP, FANCC (K545E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +3 more	GUncertain significance
Select item 370412	NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)	AOPEP, FANCC (S543*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 220199	NM_000136.3(FANCC):c.1627_1628delinsAA (p.Ser543Lys)	AOPEP, FANCC (S543K)	Indel (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 215637	NM_000136.3(FANCC):c.1623T>G (p.Pro541=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 485551	NM_000136.3(FANCC):c.1622C>T (p.Pro541Leu)	AOPEP, FANCC (P541L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1329832	NM_000136.3(FANCC):c.1618delinsTTC (p.Ser540fs)	AOPEP, FANCC (S540fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 2585975	NM_000136.3(FANCC):c.1612A>G (p.Ile538Val)	AOPEP, FANCC (I538V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 516062	NM_000136.3(FANCC):c.1611C>A (p.Gly537=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GLikely benign
Select item 127536	NM_000136.3(FANCC):c.1607T>C (p.Leu536Pro)	AOPEP, FANCC (L536P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 127535	NM_000136.3(FANCC):c.1604G>A (p.Arg535His)	AOPEP, FANCC (R535H)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 220016	NM_000136.3(FANCC):c.1603C>T (p.Arg535Cys)	AOPEP, FANCC (R535C)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 182491	NM_000136.3(FANCC):c.1597T>G (p.Trp533Gly)	AOPEP, FANCC (W533G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 216285	NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys)	AOPEP, FANCC (R532K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +4 more	GConflicting classifications of pathogenicity
Select item 220912	NM_000136.3(FANCC):c.1594A>C (p.Arg532=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 216284	NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser)	FANCC, AOPEP (L530S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1775799	NM_000136.3(FANCC):c.1586C>A (p.Thr529Asn)	AOPEP, FANCC (T529N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127534	NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu)	AOPEP, FANCC (F525L)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1204056	NM_000136.3(FANCC):c.1567A>G (p.Ile523Val)	AOPEP, FANCC (I523V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 234512	NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys)	FANCC, AOPEP (E521K)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 383837	NM_000136.3(FANCC):c.1560C>T (p.His520=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 12048	NM_000136.3(FANCC):c.1555dup (p.Thr519fs)	AOPEP, FANCC (T519fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 449977	NM_000136.3(FANCC):c.1546_1547delinsTT (p.Ala516Phe)	AOPEP, FANCC (A516F)	Indel (missense variant)	not specified +1 more	GUncertain significance
Select item 367609	NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser)	AOPEP, FANCC (T515S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 415742	NM_000136.3(FANCC):c.1534-5del	AOPEP, FANCC	Deletion (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 182490	NM_000136.3(FANCC):c.1534-5T>G	FANCC, AOPEP	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GUncertain significance
Select item 385936	NM_000136.3(FANCC):c.1534-16T>C	FANCC, AOPEP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 802492	NM_000136.3(FANCC):c.1534-18C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 1048979	NM_000136.3(FANCC):c.1533+13G>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C +2 more	GBenign/Likely benign
Select item 415741	NM_000136.3(FANCC):c.1530C>T (p.Thr510=)	FANCC, AOPEP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1503011	NM_000136.3(FANCC):c.1529C>A (p.Thr510Asn)	AOPEP, FANCC (T510N)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 517765	NM_000136.3(FANCC):c.1527C>T (p.Ile509=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 380204	NM_000136.3(FANCC):c.1524C>T (p.Val508=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 182489	NM_000136.3(FANCC):c.1516T>C (p.Trp506Arg)	AOPEP, FANCC (W506R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 220138	NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr)	AOPEP, FANCC (A505T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 182501	NM_000136.3(FANCC):c.1509G>A (p.Thr503=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 234312	NM_000136.3(FANCC):c.1508C>T (p.Thr503Met)	FANCC, AOPEP (T503M)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1774071	NM_000136.3(FANCC):c.1505A>G (p.His502Arg)	AOPEP, FANCC (H502R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1314116	NM_000136.3(FANCC):c.1502G>T (p.Gly501Val)	AOPEP, FANCC (G501V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 422397	NM_000136.3(FANCC):c.1502G>A (p.Gly501Asp)	AOPEP, FANCC (G501D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1062319	NM_000136.3(FANCC):c.1501G>A (p.Gly501Ser)	AOPEP, FANCC (G501S)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 220345	NM_000136.3(FANCC):c.1494T>C (p.Ala498=)	FANCC, AOPEP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 182488	NM_000136.3(FANCC):c.1493C>T (p.Ala498Val)	AOPEP, FANCC (A498V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 421207	NM_000136.3(FANCC):c.1492G>A (p.Ala498Thr)	AOPEP, FANCC (A498T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 127533	NM_000136.3(FANCC):c.1489T>C (p.Trp497Arg)	AOPEP, FANCC (W497R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379139	NM_000136.3(FANCC):c.1488C>G (p.Leu496=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 377848	NM_000136.3(FANCC):c.1485G>C (p.Leu495=)	FANCC, AOPEP	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 137285	NM_000136.3(FANCC):c.1485G>A (p.Leu495=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 958604	NM_000136.3(FANCC):c.1471CTC[1] (p.Leu492del)	AOPEP, FANCC (L492del)	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 571161	NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser)	AOPEP, FANCC (R488S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1305269	NM_000136.3(FANCC):c.1456C>G (p.Leu486Val)	AOPEP, FANCC (L486V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422023	NM_000136.3(FANCC):c.1444_1446del (p.Pro482del)	AOPEP, FANCC (P482del)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2429629	NM_000136.3(FANCC):c.1428C>A (p.Asp476Glu)	FANCC, AOPEP (D476E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 234504	NM_000136.3(FANCC):c.1425A>G (p.Thr475=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GLikely benign
Select item 551836	NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)	AOPEP, FANCC (Q473*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 134299	NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg)	AOPEP, FANCC (G472R)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 137284	NM_000136.3(FANCC):c.1407G>A (p.Thr469=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 419042	NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)	AOPEP, FANCC (T469M)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 449594	NM_000136.3(FANCC):c.1399C>G (p.Leu467Val)	AOPEP, FANCC (L467V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 134297	NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)	FANCC, AOPEP (Q465R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 182468	NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)	AOPEP, FANCC (A464fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2580700	NM_000136.3(FANCC):c.1379G>C (p.Ser460Thr)	AOPEP, FANCC (S460T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1072437	NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs)	AOPEP, FANCC (S459fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 3253424	NM_000136.3(FANCC):c.1377C>G (p.Ser459Arg)	AOPEP, FANCC (S459R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 127532	NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser)	AOPEP, FANCC (R458S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 234582	NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser)	AOPEP, FANCC (A455S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +4 more	GConflicting classifications of pathogenicity
Select item 182487	NM_000136.3(FANCC):c.1363G>C (p.Ala455Pro)	FANCC, AOPEP (A455P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326734	NM_000136.3(FANCC):c.1362G>A (p.Leu454=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 419059	NM_000136.3(FANCC):c.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis)	AOPEP, FANCC	Indel (missense variant)	Fanconi anemia complementation group C +1 more	GUncertain significance
Select item 419480	NM_000136.3(FANCC):c.1357C>T (p.Leu453Phe)	FANCC, AOPEP (L453F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 682207	NM_000136.3(FANCC):c.1353C>T (p.Gly451=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 134298	NM_000136.3(FANCC):c.1345G>A (p.Val449Met)	FANCC, AOPEP (V449M)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GBenign

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