"Myriad Genetics, Inc."[submitter] AND "BAP1"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1987603	NM_004656.4(BAP1):c.2012del (p.Tyr671fs)	BAP1 (Y671fs)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic/Likely pathogenic
Select item 820463	NM_004656.4(BAP1):c.1993C>T (p.Gln665Ter)	BAP1 (Q665*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1332479	NM_004656.4(BAP1):c.1983+4G>A	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome +1 more	GConflicting classifications of pathogenicity
Select item 656678	NM_004656.4(BAP1):c.1938T>A (p.Tyr646Ter)	BAP1 (Y646*)	Single nucleotide variant (nonsense)	BAP1-related tumor predisposition syndrome +1 more	GPathogenic
Select item 3148669	NM_004656.4(BAP1):c.1934del (p.Asn645fs)	BAP1 (N645fs +1 more)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
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 2583846	NM_004656.4(BAP1):c.1839_1848dup (p.Arg617fs)	BAP1 (R599fs +1 more)	Duplication (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 2431334	NM_004656.4(BAP1):c.1833_1834dup (p.Lys612fs)	BAP1 (K612fs)	Microsatellite (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 2674024	NM_004656.4(BAP1):c.1813del (p.Glu605fs)	BAP1 (E587fs +1 more)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 133666	NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg)	BAP1 (G579R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 221278	NM_004656.4(BAP1):c.1717del (p.Leu573fs)	BAP1 (L573fs)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome +3 more	GPathogenic
Select item 485270	NM_004656.4(BAP1):c.1695dup (p.Glu566Ter)	BAP1 (E566*)	Duplication (nonsense)	BAP1-related tumor predisposition syndrome +1 more	GPathogenic
Select item 2674023	NM_004656.4(BAP1):c.1690del (p.Leu564fs)	BAP1 (L546fs +1 more)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 570763	NM_004656.4(BAP1):c.1474_1475del (p.Ser492fs)	BAP1 (S492fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 953129	NM_004656.4(BAP1):c.1433_1449dup (p.Pro484fs)	BAP1 (P484fs)	Duplication (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 2583842	NM_004656.4(BAP1):c.1439del (p.Thr480fs)	BAP1 (T462fs +1 more)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 2674019	NM_004656.4(BAP1):c.1382delinsAA (p.Ile461fs)	BAP1 (I443fs +1 more)	Indel (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 2008572	NM_004656.4(BAP1):c.1359dup (p.Glu454fs)	BAP1 (E454fs)	Duplication (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 434478	NM_004656.4(BAP1):c.1358_1359del (p.Lys453fs)	BAP1 (K453fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 2583739	NM_004656.4(BAP1):c.1253dup (p.Tyr418Ter)	BAP1 (Y400* +1 more)	Duplication (nonsense)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 2573286	NM_004656.4(BAP1):c.1228C>T (p.Gln410Ter)	BAP1, DNAH1 (Q392* +1 more)	Single nucleotide variant (nonsense)	Familial melanoma +1 more	GPathogenic
Select item 2431318	NM_004656.4(BAP1):c.1224del (p.Asp408fs)	BAP1 (D408fs)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 449856	NM_004656.4(BAP1):c.1203dup (p.Glu402Ter)	BAP1 (E402*)	Duplication (nonsense)	not provided +2 more	GPathogenic
Select item 818479	NM_004656.4(BAP1):c.1169dup (p.Pro391fs)	BAP1 (P391fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2457520	NM_004656.4(BAP1):c.1117-1G>A	BAP1	Single nucleotide variant (splice acceptor variant)	BAP1-related tumor predisposition syndrome +2 more	GLikely pathogenic
Select item 2583765	NM_004656.4(BAP1):c.973del (p.Ser325fs)	BAP1 (S307fs +1 more)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 661010	NM_004656.4(BAP1):c.959dup (p.Cys320fs)	BAP1 (C320fs)	Duplication (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 1766573	NM_004656.4(BAP1):c.932-2A>G	BAP1	Single nucleotide variant (splice acceptor variant)	BAP1-related tumor predisposition syndrome +1 more	GConflicting classifications of pathogenicity
Select item 133661	NM_004656.4(BAP1):c.905C>T (p.Pro302Leu)	BAP1 (P302L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 822865	NM_004656.4(BAP1):c.898_899del (p.Arg300fs)	BAP1 (R300fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 240068	NM_004656.4(BAP1):c.878C>T (p.Pro293Leu)	BAP1 (P293L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 472716	NM_004656.4(BAP1):c.869A>G (p.Asn290Ser)	BAP1 (N290S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 539903	NM_004656.4(BAP1):c.831dup (p.Glu278fs)	BAP1 (E278fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 30305	NM_004656.4(BAP1):c.799C>T (p.Gln267Ter)	BAP1 (Q267*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2583555	NM_004656.4(BAP1):c.634G>T (p.Glu212Ter)	BAP1 (E212*)	Single nucleotide variant (nonsense)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 826235	NM_004656.4(BAP1):c.619del (p.Arg207fs)	BAP1 (R207fs)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome +1 more	GPathogenic
Select item 1450488	NM_004656.4(BAP1):c.605G>A (p.Trp202Ter)	BAP1 (W202*)	Single nucleotide variant (nonsense)	BAP1-related tumor predisposition syndrome +1 more	GPathogenic
Select item 421422	NM_004656.4(BAP1):c.592dup (p.Glu198fs)	BAP1 (E198fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 539909	NM_004656.4(BAP1):c.592G>T (p.Glu198Ter)	BAP1 (E198*)	Single nucleotide variant (nonsense)	BAP1-related tumor predisposition syndrome +1 more	GPathogenic
Select item 2673793	NM_004656.4(BAP1):c.550del (p.Asp184fs)	BAP1 (D184fs)	Deletion (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 412449	NM_004656.4(BAP1):c.517dup (p.Tyr173fs)	BAP1 (Y173fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1072297	NM_004656.4(BAP1):c.436dup (p.Arg146fs)	BAP1 (R146fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 490850	NM_004656.4(BAP1):c.255+1G>A	BAP1	Single nucleotide variant (splice donor variant)	BAP1-related tumor predisposition syndrome +1 more	GLikely pathogenic
Select item 2674018	NM_004656.4(BAP1):c.122+1del	BAP1	Deletion (splice donor variant)	BAP1-related tumor predisposition syndrome	GLikely pathogenic
Select item 2583596	NM_004656.4(BAP1):c.112A>T (p.Lys38Ter)	BAP1 (K38*)	Single nucleotide variant (nonsense)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 1454143	NM_004656.4(BAP1):c.106C>T (p.Gln36Ter)	BAP1 (Q36*)	Single nucleotide variant (nonsense)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 2583603	NM_004656.4(BAP1):c.68-2A>C	BAP1	Single nucleotide variant (splice acceptor variant)	BAP1-related tumor predisposition syndrome	GLikely pathogenic
Select item 2014640	NM_004656.4(BAP1):c.68-2A>G	BAP1	Single nucleotide variant (splice acceptor variant)	BAP1-related tumor predisposition syndrome	GLikely pathogenic
Select item 1489173	NM_004656.4(BAP1):c.38-2A>G	BAP1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2583743	NM_004656.4(BAP1):c.10_11delinsC (p.Gly4fs)	BAP1 (G4fs)	Indel (frameshift variant)	BAP1-related tumor predisposition syndrome	GPathogenic
Select item 1784178	NM_004656.4(BAP1):c.1A>T (p.Met1Leu)	BAP1 (M1L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic

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Items: 52