"Baylor Genetics"[submitter] AND "BAP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 820842	NM_004656.4(BAP1):c.2185C>T (p.Gln729Ter)	BAP1 (Q729*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 489631	NM_004656.4(BAP1):c.2183G>T (p.Arg728Leu)	BAP1 (R728L)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GUncertain significance
Select item 569962	NM_004656.4(BAP1):c.2164C>T (p.Arg722Cys)	BAP1 (R722C)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 490846	NM_004656.4(BAP1):c.2162C>G (p.Ser721Cys)	BAP1 (S721C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 629895	NM_004656.4(BAP1):c.2158C>T (p.Arg720Cys)	BAP1 (R720C)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +3 more	GUncertain significance
Select item 1173084	NM_004656.4(BAP1):c.2153G>A (p.Arg718Gln)	BAP1 (R718Q)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 1316381	NM_004656.4(BAP1):c.2102G>A (p.Arg701His)	BAP1 (R701H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1978108	NM_004656.4(BAP1):c.2095C>T (p.Arg699Trp)	BAP1 (R681W +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3240849	NM_004656.4(BAP1):c.2080C>G (p.Gln694Glu)	BAP1 (Q676E +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2679900	NM_004656.4(BAP1):c.2061G>A (p.Met687Ile)	BAP1 (M669I +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 3240845	NM_004656.4(BAP1):c.2057G>T (p.Gly686Val)	BAP1 (G668V +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 30302	NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter)	BAP1 (Q684*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 3240853	NM_004656.4(BAP1):c.2023A>G (p.Ile675Val)	BAP1 (I657V +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 857522	NM_004656.4(BAP1):c.2014G>A (p.Asp672Asn)	BAP1 (D672N)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1987603	NM_004656.4(BAP1):c.2012del (p.Tyr671fs)	BAP1 (Y671fs)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic/Likely pathogenic
Select item 489630	NM_004656.4(BAP1):c.2005C>T (p.His669Tyr)	BAP1 (H669Y)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +3 more	GUncertain significance
Select item 643705	NM_004656.4(BAP1):c.1984-3_1999del	BAP1	Deletion (splice acceptor variant)	BAP1-related tumor predisposition syndrome	GLikely pathogenic
Select item 1036751	NM_004656.4(BAP1):c.1995G>T (p.Gln665His)	BAP1 (Q665H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 485265	NM_004656.4(BAP1):c.1943C>T (p.Ala648Val)	BAP1 (A648V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 490825	NM_004656.4(BAP1):c.1928T>C (p.Ile643Thr)	BAP1 (I643T)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GUncertain significance
Select item 485298	NM_004656.4(BAP1):c.1926G>C (p.Glu642Asp)	BAP1 (E642D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 566715	NM_004656.4(BAP1):c.1922C>A (p.Ala641Asp)	BAP1 (A641D)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 1035279	NM_004656.4(BAP1):c.1918G>C (p.Glu640Gln)	BAP1 (E640Q)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 838659	NM_004656.4(BAP1):c.1891-1G>A	BAP1	Single nucleotide variant (splice acceptor variant)	BAP1-related tumor predisposition syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2679911	NM_004656.4(BAP1):c.1890+2T>C	BAP1	Single nucleotide variant (splice donor variant)	BAP1-related tumor predisposition syndrome	GLikely pathogenic
Select item 485294	NM_004656.4(BAP1):c.1873G>A (p.Glu625Lys)	BAP1 (E625K)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 1781621	NM_004656.4(BAP1):c.1869del (p.Ser623fs)	BAP1 (S623fs)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome +1 more	GPathogenic/Likely pathogenic
Select item 629041	NM_004656.4(BAP1):c.1868G>A (p.Ser623Asn)	BAP1 (S623N)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GUncertain significance
Select item 864327	NM_004656.4(BAP1):c.1861C>A (p.Pro621Thr)	BAP1 (P621T)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GUncertain significance
Select item 485290	NM_004656.4(BAP1):c.1858G>A (p.Glu620Lys)	BAP1 (E620K)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GConflicting classifications of pathogenicity
Select item 480826	NM_004656.4(BAP1):c.1843A>G (p.Met615Val)	BAP1 (M615V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 489627	NM_004656.4(BAP1):c.1807G>A (p.Val603Ile)	BAP1 (V603I)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GConflicting classifications of pathogenicity
Select item 472679	NM_004656.4(BAP1):c.1806G>C (p.Glu602Asp)	BAP1 (E602D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 412448	NM_004656.4(BAP1):c.1801_1805delinsGAGGT (p.Lys601_Glu602delinsGluVal)	BAP1	Indel (missense variant)	BAP1-related tumor predisposition syndrome	GConflicting classifications of pathogenicity
Select item 580624	NM_004656.4(BAP1):c.1793C>G (p.Pro598Arg)	BAP1 (P598R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 630078	NM_004656.4(BAP1):c.1780G>C (p.Gly594Arg)	BAP1 (G594R)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 412401	NM_004656.4(BAP1):c.1769A>T (p.Gln590Leu)	BAP1 (Q590L)	Single nucleotide variant (missense variant)	Hereditary cancer +3 more	GUncertain significance
Select item 842663	NM_004656.4(BAP1):c.1763C>T (p.Pro588Leu)	BAP1 (P588L)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 539906	NM_004656.4(BAP1):c.1763C>G (p.Pro588Arg)	BAP1 (P588R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 490814	NM_004656.4(BAP1):c.1756A>C (p.Ile586Leu)	BAP1 (I586L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 412408	NM_004656.4(BAP1):c.1751C>A (p.Pro584His)	BAP1 (P584H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 412429	NM_004656.4(BAP1):c.1748C>T (p.Ser583Leu)	BAP1 (S583L)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +3 more	GUncertain significance
Select item 412422	NM_004656.4(BAP1):c.1721C>T (p.Ala574Val)	BAP1 (A574V)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GConflicting classifications of pathogenicity
Select item 221278	NM_004656.4(BAP1):c.1717del (p.Leu573fs)	BAP1 (L573fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 567857	NM_004656.4(BAP1):c.1669A>G (p.Ile557Val)	BAP1 (I557V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 489622	NM_004656.4(BAP1):c.1652G>A (p.Arg551His)	BAP1 (R551H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2679901	NM_004656.4(BAP1):c.1648G>A (p.Val550Ile)	BAP1 (V532I +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 584645	NM_004656.4(BAP1):c.1642C>T (p.Arg548Cys)	BAP1 (R548C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 412423	NM_004656.4(BAP1):c.1633C>T (p.Arg545Cys)	BAP1 (R545C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 412438	NM_004656.4(BAP1):c.1628G>A (p.Cys543Tyr)	BAP1 (C543Y)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 1008767	NM_004656.4(BAP1):c.1621G>A (p.Val541Ile)	BAP1 (V541I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 924711	NM_004656.4(BAP1):c.1616T>G (p.Leu539Arg)	BAP1 (L539R)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 539898	NM_004656.4(BAP1):c.1609A>G (p.Ser537Gly)	BAP1 (S537G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2624656	NM_004656.4(BAP1):c.1608C>A (p.Asp536Glu)	BAP1 (D518E +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 2679899	NM_004656.4(BAP1):c.1604A>G (p.Asp535Gly)	BAP1 (D517G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2157046	NM_004656.4(BAP1):c.1588G>A (p.Val530Met)	BAP1 (V530M +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 1775705	NM_004656.4(BAP1):c.1581C>G (p.Ile527Met)	BAP1 (I509M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 628665	NM_004656.4(BAP1):c.1571C>A (p.Thr524Asn)	BAP1 (T524N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1775498	NM_004656.4(BAP1):c.1570A>C (p.Thr524Pro)	BAP1 (T506P +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 3240850	NM_004656.4(BAP1):c.1568T>C (p.Val523Ala)	BAP1 (V505A +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2679892	NM_004656.4(BAP1):c.1565C>T (p.Pro522Leu)	BAP1 (P504L +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2203396	NM_004656.4(BAP1):c.1555C>G (p.Pro519Ala)	BAP1 (P501A +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 629419	NM_004656.4(BAP1):c.1555C>T (p.Pro519Ser)	BAP1 (P519S)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GConflicting classifications of pathogenicity
Select item 485247	NM_004656.4(BAP1):c.1553G>A (p.Arg518Gln)	BAP1 (R518Q)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GUncertain significance
Select item 539914	NM_004656.4(BAP1):c.1550C>T (p.Thr517Met)	BAP1 (T517M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2679903	NM_004656.4(BAP1):c.1541C>G (p.Ala514Gly)	BAP1 (A496G +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 819484	NM_004656.4(BAP1):c.1535G>A (p.Arg512His)	BAP1 (R512H)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GConflicting classifications of pathogenicity
Select item 485269	NM_004656.4(BAP1):c.1535G>T (p.Arg512Leu)	BAP1 (R512L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 490797	NM_004656.4(BAP1):c.1523G>A (p.Arg508His)	BAP1 (R508H)	Single nucleotide variant (missense variant)	BAP1-related disorder +2 more	GUncertain significance
Select item 923482	NM_004656.4(BAP1):c.1512C>G (p.Asn504Lys)	BAP1 (N504K)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 646782	NM_004656.4(BAP1):c.1498G>A (p.Gly500Ser)	BAP1 (G500S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1019014	NM_004656.4(BAP1):c.1495A>G (p.Ile499Val)	BAP1 (I499V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2679910	NM_004656.4(BAP1):c.1472_1475del (p.Glu491fs)	BAP1 (E473fs +1 more)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GLikely pathogenic
Select item 1773151	NM_004656.4(BAP1):c.1460C>T (p.Thr487Ile)	BAP1 (T469I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 485301	NM_004656.4(BAP1):c.1445C>T (p.Ser482Leu)	BAP1 (S482L)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GUncertain significance
Select item 412446	NM_004656.4(BAP1):c.1442A>G (p.His481Arg)	BAP1 (H481R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 472669	NM_004656.4(BAP1):c.1441C>A (p.His481Asn)	BAP1 (H481N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 630728	NM_004656.4(BAP1):c.1432G>A (p.Val478Met)	BAP1 (V478M)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 842049	NM_004656.4(BAP1):c.1414G>A (p.Gly472Arg)	BAP1 (G472R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3240847	NM_004656.4(BAP1):c.1403_1404delinsCT (p.Ser468Thr)	BAP1 (S450T +1 more)	Indel (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 566419	NM_004656.4(BAP1):c.1393A>G (p.Ile465Val)	BAP1 (I465V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1383546	NM_004656.4(BAP1):c.1385C>T (p.Pro462Leu)	BAP1 (P462L)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 472667	NM_004656.4(BAP1):c.1379C>A (p.Ser460Ter)	BAP1 (S460*)	Single nucleotide variant (nonsense)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 434478	NM_004656.4(BAP1):c.1358_1359del (p.Lys453fs)	BAP1 (K453fs)	Deletion (frameshift variant)	Melanoma, uveal, susceptibility to, 2 +4 more	GPathogenic
Select item 489614	NM_004656.4(BAP1):c.1358A>G (p.Lys453Arg)	BAP1 (K453R)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GConflicting classifications of pathogenicity
Select item 818991	NM_004656.4(BAP1):c.1354C>T (p.Leu452Phe)	BAP1 (L452F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 646341	NM_004656.4(BAP1):c.1349A>G (p.Glu450Gly)	BAP1 (E450G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 472665	NM_004656.4(BAP1):c.1339G>A (p.Val447Ile)	BAP1 (V447I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 660841	NM_004656.4(BAP1):c.1337A>C (p.Asn446Thr)	BAP1 (N446T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 489613	NM_004656.4(BAP1):c.1337A>T (p.Asn446Ile)	BAP1 (N446I)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GConflicting classifications of pathogenicity
Select item 485251	NM_004656.4(BAP1):c.1337A>G (p.Asn446Ser)	BAP1 (N446S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 628387	NM_004656.4(BAP1):c.1331C>T (p.Thr444Ile)	BAP1 (T444I)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2679908	NM_004656.4(BAP1):c.1330A>C (p.Thr444Pro)	BAP1 (T426P +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 1014296	NM_004656.4(BAP1):c.1295C>G (p.Ser432Cys)	BAP1 (S432C)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 1769140	NM_004656.4(BAP1):c.1292G>A (p.Gly431Asp)	BAP1 (G431D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 539916	NM_004656.4(BAP1):c.1291G>A (p.Gly431Ser)	BAP1 (G431S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 485261	NM_004656.4(BAP1):c.1280G>A (p.Gly427Glu)	BAP1 (G427E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 569477	NM_004656.4(BAP1):c.1253A>G (p.Tyr418Cys)	BAP1 (Y418C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 489609	NM_004656.4(BAP1):c.1251-11G>A	BAP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3240844	NM_004656.4(BAP1):c.1250+32T>G	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome	GUncertain significance

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