AOPEP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
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 149008	GRCh38/hg38 9q22.31-22.32(chr9:93574616-95115422)x4	AOPEP, BARX1 +76 more	Copy number gain	See cases	GUncertain significance
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 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 1701573	NM_001193329.3(AOPEP):c.142G>A (p.Glu48Lys)	AOPEP (E48K)	Single nucleotide variant (missense variant +2 more)	not provided	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 769754	NM_001193329.3(AOPEP):c.308G>A (p.Ser103Asn)	AOPEP (S103N)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 3067285	NM_001193329.3(AOPEP):c.614A>G (p.Tyr205Cys)	AOPEP (Y205C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2498245	NM_001193329.3(AOPEP):c.703C>T (p.Gln235Ter)	AOPEP (Q235*)	Single nucleotide variant (nonsense +2 more)	Dystonia 31	GLikely pathogenic
Select item 1319961	NM_001193329.3(AOPEP):c.763C>T (p.Arg255Ter)	AOPEP (R255*)	Single nucleotide variant (nonsense +2 more)	Dystonia 31	GPathogenic
Select item 1319960	NM_001193329.3(AOPEP):c.777G>A (p.Trp259Ter)	AOPEP (W259*)	Single nucleotide variant (nonsense +2 more)	Dystonia 31	GPathogenic
Select item 2663844	NM_001193329.3(AOPEP):c.964+2T>G	AOPEP	Single nucleotide variant (splice donor variant +1 more)	Dystonia 31	GPathogenic
Select item 2659320	NM_001193329.3(AOPEP):c.1206C>G (p.Val402=)	AOPEP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1319962	NM_001193329.3(AOPEP):c.1215del (p.Val406fs)	AOPEP (V116fs +3 more)	Deletion (frameshift variant +1 more)	AOPEP-related disorder	GLikely pathogenic
Select item 3026446	NM_001193329.3(AOPEP):c.1353G>A (p.Leu451=)	AOPEP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 217298	GRCh37/hg19 9q22.32(97579146-99280739)x1	LOC124310599, LOC124310600 +94 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 2571334	NM_001193329.3(AOPEP):c.1405G>A (p.Gly469Arg)	AOPEP (G179R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1319959	NM_001193329.3(AOPEP):c.1477C>T (p.Arg493Ter)	AOPEP (R493* +2 more)	Single nucleotide variant (nonsense +2 more)	Dystonia 31	GPathogenic
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 2499095	NM_001193329.3(AOPEP):c.1609C>T (p.Arg537Cys)	AOPEP, LOC101928119 (R247C +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3025026	NM_001193329.3(AOPEP):c.1641C>T (p.Pro547=)	AOPEP, LOC101928119	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
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 1319963	NM_001193329.3(AOPEP):c.1744del (p.Met582fs)	AOPEP (M152fs +3 more)	Deletion (frameshift variant +2 more)	Dystonia 31	GPathogenic
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 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 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 3234199	NM_001193329.3(AOPEP):c.2320-4G>A	AOPEP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 913553	NM_000136.3(FANCC):c.*2564C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367569	NM_000136.3(FANCC):c.*2552T>C	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GBenign
Select item 367570	NM_000136.3(FANCC):c.*2528A>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 913554	NM_000136.3(FANCC):c.*2524G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 913555	NM_000136.3(FANCC):c.*2402G>C	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 913556	NM_000136.3(FANCC):c.*2308G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367571	NM_000136.3(FANCC):c.*2305G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367572	NM_000136.3(FANCC):c.*2296G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367573	NM_000136.3(FANCC):c.*2271G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GLikely benign
Select item 913941	NM_000136.3(FANCC):c.*2246G>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 913943	NM_000136.3(FANCC):c.*2164G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GLikely benign
Select item 913942	NM_000136.3(FANCC):c.*2164G>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367574	NM_000136.3(FANCC):c.*2128C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367575	NM_000136.3(FANCC):c.*2085C>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GBenign
Select item 367576	NM_000136.3(FANCC):c.*2052G>C	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 915182	NM_000136.3(FANCC):c.*1976C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367577	NM_000136.3(FANCC):c.*1968G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GBenign
Select item 915183	NM_000136.3(FANCC):c.*1901C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367579	NM_000136.3(FANCC):c.*1895T>C	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GLikely benign
Select item 367578	NM_000136.3(FANCC):c.*1895T>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367580	NM_000136.3(FANCC):c.*1879C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GLikely benign
Select item 367581	NM_000136.3(FANCC):c.*1871G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C +1 more	GBenign
Select item 912467	NM_000136.3(FANCC):c.*1727T>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C +1 more	GBenign
Select item 367582	NM_000136.3(FANCC):c.*1727T>C	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 912468	NM_000136.3(FANCC):c.*1675A>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 912469	NM_000136.3(FANCC):c.*1662C>T	FANCC, AOPEP	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C +1 more	GBenign
Select item 912470	NM_000136.3(FANCC):c.*1649A>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367583	NM_000136.3(FANCC):c.*1516A>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GLikely benign
Select item 912471	NM_000136.3(FANCC):c.*1515C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367584	NM_000136.3(FANCC):c.*1495T>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367585	NM_000136.3(FANCC):c.*1483T>C	FANCC, AOPEP	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 913587	NM_000136.3(FANCC):c.*1468C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 913588	NM_000136.3(FANCC):c.*1379C>G	FANCC, AOPEP	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367586	NM_000136.3(FANCC):c.*1359C>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367587	NM_000136.3(FANCC):c.*1339C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367588	NM_000136.3(FANCC):c.*1332A>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367589	NM_000136.3(FANCC):c.*1288T>C	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C +1 more	GBenign
Select item 367590	NM_000136.3(FANCC):c.*1276C>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367591	NM_000136.3(FANCC):c.*1262T>C	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GLikely benign
Select item 913979	NM_000136.3(FANCC):c.*1197A>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 913980	NM_000136.3(FANCC):c.*1096T>C	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 913981	NM_000136.3(FANCC):c.*1059A>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367592	NM_000136.3(FANCC):c.*1045C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 913982	NM_000136.3(FANCC):c.*1028C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 913983	NM_000136.3(FANCC):c.*984G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367593	NM_000136.3(FANCC):c.*983C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367594	NM_000136.3(FANCC):c.*884C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367595	NM_000136.3(FANCC):c.*825C>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367596	NM_000136.3(FANCC):c.*715AGTT[2]	AOPEP, FANCC	Microsatellite (3 prime UTR variant)	Fanconi anemia	GLikely benign
Select item 367597	NM_000136.3(FANCC):c.*667C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 915215	NM_000136.3(FANCC):c.*660C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GLikely benign
Select item 367598	NM_000136.3(FANCC):c.604_605del	AOPEP, FANCC	Deletion (3 prime UTR variant)	Fanconi anemia	GLikely benign
Select item 367599	NM_000136.3(FANCC):c.*593C>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GLikely benign
Select item 915216	NM_000136.3(FANCC):c.*587C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GLikely benign

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