2176[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 2083

<< First< Prev

Page of 21

	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 217298	GRCh37/hg19 9q22.32(97579146-99280739)x1	LOC124310594, LOC124310595 +94 more	Copy number loss	Gorlin syndrome	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 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	FANCC, AOPEP	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)	not provided +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	AOPEP, FANCC	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	AOPEP, FANCC	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	AOPEP, FANCC	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	FANCC, AOPEP	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
Select item 915217	NM_000136.3(FANCC):c.*577G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367600	NM_000136.3(FANCC):c.*576C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367601	NM_000136.3(FANCC):c.*516T>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 912512	NM_000136.3(FANCC):c.*483A>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 912513	NM_000136.3(FANCC):c.*476A>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 210975	NM_000136.3(FANCC):c.*450G>A	FANCC, AOPEP	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C +1 more	GUncertain significance
Select item 912514	NM_000136.3(FANCC):c.*431T>C	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367602	NM_000136.3(FANCC):c.*359A>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GBenign
Select item 367603	NM_000136.3(FANCC):c.*338C>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia	GUncertain significance
Select item 912515	NM_000136.3(FANCC):c.*267G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 367604	NM_000136.3(FANCC):c.*254G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 913625	NM_000136.3(FANCC):c.*250G>A	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GLikely benign
Select item 367605	NM_000136.3(FANCC):c.*249C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 913626	NM_000136.3(FANCC):c.*213T>G	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GLikely benign
Select item 367606	NM_000136.3(FANCC):c.*143A>G	FANCC, AOPEP	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group C	GUncertain significance
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 367608	NM_000136.3(FANCC):c.*97dup	FANCC, AOPEP	Duplication (3 prime UTR variant)	Fanconi anemia	GUncertain significance
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 657386	NC_000009.12:g.(?_95101697)_(95508371_?)del	AOPEP, FANCC +21 more	Deletion	Gorlin syndrome	GPathogenic
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 456067	NC_000009.12:g.(?_95101700)_(95508367_?)del	LOC130002131, LOC130002132 +21 more	Deletion	Gorlin syndrome +1 more	GPathogenic
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 583893	NC_000009.11:g.(?_97863983)_(98270649_?)dup	AOPEP, FANCC +21 more	Duplication	Fanconi anemia	GUncertain significance

<< First< Prev

Page of 21