"Ambry Genetics"[submitter] AND "AOPEP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3127397	NM_001193329.3(AOPEP):c.127A>G (p.Ile43Val)	AOPEP (I43V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3127407	NM_001193329.3(AOPEP):c.250G>A (p.Val84Met)	AOPEP (V84M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3127408	NM_001193329.3(AOPEP):c.347A>G (p.His116Arg)	AOPEP (H116R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3127399	NM_001193329.3(AOPEP):c.1513G>A (p.Ala505Thr)	AOPEP (A398T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3127400	NM_001193329.3(AOPEP):c.1736A>G (p.Lys579Arg)	AOPEP (K579R +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3127401	NM_001193329.3(AOPEP):c.1756T>C (p.Tyr586His)	AOPEP (Y479H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3127402	NM_001193329.3(AOPEP):c.2017C>T (p.Leu673Phe)	AOPEP, LOC130002124 (L243F +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3127403	NM_001193329.3(AOPEP):c.2270A>G (p.Lys757Arg)	AOPEP (K711R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3127404	NM_001193329.3(AOPEP):c.2300G>A (p.Arg767Lys)	AOPEP (R767K +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3127405	NM_001193329.3(AOPEP):c.2301G>T (p.Arg767Ser)	AOPEP (R337S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3127406	NM_001193329.3(AOPEP):c.2401C>T (p.Arg801Trp)	AOPEP (R702W +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 137286	NM_000136.3(FANCC):c.*5C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia +4 more	GBenign/Likely benign
Select item 552446	NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?)	AOPEP, FANCC	Duplication (frameshift variant +1 more)	Fanconi anemia complementation group C +1 more	GUncertain significance
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 2585984	NM_000136.3(FANCC):c.1667_1670dup (p.Gln557fs)	AOPEP, FANCC (Q557fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1777673	NM_000136.3(FANCC):c.1670A>G (p.Gln557Arg)	AOPEP, FANCC (Q557R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2450944	NM_000136.3(FANCC):c.1662G>A (p.Leu554=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 12043	NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	AOPEP, FANCC (L554P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 819740	NM_000136.3(FANCC):c.1660C>T (p.Leu554=)	FANCC, AOPEP	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1777391	NM_000136.3(FANCC):c.1658A>T (p.Glu553Val)	AOPEP, FANCC (E553V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1777352	NM_000136.3(FANCC):c.1656A>G (p.Lys552=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 937123	NM_000136.3(FANCC):c.1655A>G (p.Lys552Arg)	AOPEP, FANCC (K552R)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1777313	NM_000136.3(FANCC):c.1654A>G (p.Lys552Glu)	AOPEP, FANCC (K552E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1389407	NM_000136.3(FANCC):c.1654A>C (p.Lys552Gln)	AOPEP, FANCC (K552Q)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2585970	NM_000136.3(FANCC):c.1651_1652dup (p.Lys552fs)	AOPEP, FANCC (K552fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1777282	NM_000136.3(FANCC):c.1652T>A (p.Leu551His)	AOPEP, FANCC (L551H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1777147	NM_000136.3(FANCC):c.1645G>C (p.Glu549Gln)	AOPEP, FANCC (E549Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +1 more	GUncertain significance
Select item 1777094	NM_000136.3(FANCC):c.1643G>T (p.Arg548Leu)	AOPEP, FANCC (R548L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 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)	AOPEP, FANCC (R548*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1777027	NM_000136.3(FANCC):c.1640C>G (p.Ala547Gly)	AOPEP, FANCC (A547G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 949953	NM_000136.3(FANCC):c.1640C>T (p.Ala547Val)	AOPEP, FANCC (A547V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3230370	NM_000136.3(FANCC):c.1639G>A (p.Ala547Thr)	AOPEP, FANCC (A547T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2450935	NM_000136.3(FANCC):c.1639G>T (p.Ala547Ser)	AOPEP, FANCC (A547S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 951963	NM_000136.3(FANCC):c.1636C>G (p.Leu546Val)	AOPEP, FANCC (L546V)	Single nucleotide variant (missense variant)	Fanconi anemia +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 +3 more	GConflicting classifications of pathogenicity
Select item 418879	NM_000136.3(FANCC):c.1633A>G (p.Lys545Glu)	AOPEP, FANCC (K545E)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 819704	NM_000136.3(FANCC):c.1629A>G (p.Ser543=)	FANCC, AOPEP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2092843	NM_000136.3(FANCC):c.1628C>T (p.Ser543Leu)	AOPEP, FANCC (S543L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 220199	NM_000136.3(FANCC):c.1627_1628delinsAA (p.Ser543Lys)	AOPEP, FANCC (S543K)	Indel (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2462847	NM_000136.3(FANCC):c.1627T>A (p.Ser543Thr)	AOPEP, FANCC (S543T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2585979	NM_000136.3(FANCC):c.1626A>G (p.Arg542=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 2450924	NM_000136.3(FANCC):c.1624A>G (p.Arg542Gly)	AOPEP, FANCC (R542G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 215637	NM_000136.3(FANCC):c.1623T>G (p.Pro541=)	FANCC, AOPEP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 485551	NM_000136.3(FANCC):c.1622C>T (p.Pro541Leu)	AOPEP, FANCC (P541L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1776598	NM_000136.3(FANCC):c.1620C>T (p.Ser540=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 3230369	NM_000136.3(FANCC):c.1618A>G (p.Ser540Gly)	AOPEP, FANCC (S540G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 945288	NM_000136.3(FANCC):c.1615G>A (p.Glu539Lys)	AOPEP, FANCC (E539K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1776465	NM_000136.3(FANCC):c.1614T>C (p.Ile538=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1776444	NM_000136.3(FANCC):c.1613T>C (p.Ile538Thr)	AOPEP, FANCC (I538T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2585975	NM_000136.3(FANCC):c.1612A>G (p.Ile538Val)	AOPEP, FANCC (I538V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 516062	NM_000136.3(FANCC):c.1611C>A (p.Gly537=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1917547	NM_000136.3(FANCC):c.1608T>C (p.Leu536=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1776343	NM_000136.3(FANCC):c.1608T>G (p.Leu536=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	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 2450914	NM_000136.3(FANCC):c.1604G>C (p.Arg535Pro)	AOPEP, FANCC (R535P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	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)	Hereditary cancer-predisposing syndrome +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 1775982	NM_000136.3(FANCC):c.1594A>G (p.Arg532Gly)	AOPEP, FANCC (R532G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 220912	NM_000136.3(FANCC):c.1594A>C (p.Arg532=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 705442	NM_000136.3(FANCC):c.1593C>T (p.Tyr531=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	FANCC-related condition +2 more	GLikely benign
Select item 216284	NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser)	AOPEP, FANCC (L530S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1603612	NM_000136.3(FANCC):c.1588T>C (p.Leu530=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1078740	NM_000136.3(FANCC):c.1587C>G (p.Thr529=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 711662	NM_000136.3(FANCC):c.1587C>T (p.Thr529=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1775799	NM_000136.3(FANCC):c.1586C>A (p.Thr529Asn)	AOPEP, FANCC (T529N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 819602	NM_000136.3(FANCC):c.1585A>T (p.Thr529Ser)	AOPEP, FANCC (T529S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1775773	NM_000136.3(FANCC):c.1584G>A (p.Gln528=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1775631	NM_000136.3(FANCC):c.1578T>G (p.Leu526=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 965630	NM_000136.3(FANCC):c.1573T>C (p.Phe525Leu)	AOPEP, FANCC (F525L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 526329	NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr)	AOPEP, FANCC (I523T)	Single nucleotide variant (missense variant)	Fanconi anemia +1 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 1775376	NM_000136.3(FANCC):c.1566C>T (p.Ile522=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1775371	NM_000136.3(FANCC):c.1566C>G (p.Ile522Met)	AOPEP, FANCC (I522M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1775359	NM_000136.3(FANCC):c.1565T>C (p.Ile522Thr)	AOPEP, FANCC (I522T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230368	NM_000136.3(FANCC):c.1563G>A (p.Glu521=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1034879	NM_000136.3(FANCC):c.1563G>C (p.Glu521Asp)	AOPEP, FANCC (E521D)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 949422	NM_000136.3(FANCC):c.1562A>C (p.Glu521Ala)	AOPEP, FANCC (E521A)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 234512	NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys)	FANCC, AOPEP (E521K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 819542	NM_000136.3(FANCC):c.1560C>G (p.His520Gln)	AOPEP, FANCC (H520Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 383837	NM_000136.3(FANCC):c.1560C>T (p.His520=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1775115	NM_000136.3(FANCC):c.1554A>G (p.Ile518Met)	AOPEP, FANCC (I518M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230367	NM_000136.3(FANCC):c.1552A>T (p.Ile518Leu)	AOPEP, FANCC (I518L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2450926	NM_000136.3(FANCC):c.1552A>G (p.Ile518Val)	AOPEP, FANCC (I518V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1399718	NM_000136.3(FANCC):c.1551G>C (p.Glu517Asp)	AOPEP, FANCC (E517D)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1774977	NM_000136.3(FANCC):c.1548T>A (p.Ala516=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 1774945	NM_000136.3(FANCC):c.1546G>A (p.Ala516Thr)	AOPEP, FANCC (A516T)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2565543	NM_000136.3(FANCC):c.1545T>A (p.Thr515=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 819473	NM_000136.3(FANCC):c.1545T>C (p.Thr515=)	FANCC, AOPEP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 367609	NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser)	AOPEP, FANCC (T515S)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GUncertain significance
Select item 2450931	NM_000136.3(FANCC):c.1543A>C (p.Thr515Pro)	AOPEP, FANCC (T515P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1714063	NM_000136.3(FANCC):c.1542C>G (p.His514Gln)	AOPEP, FANCC (H514Q)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 2565542	NM_000136.3(FANCC):c.1541A>G (p.His514Arg)	AOPEP, FANCC (H514R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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