"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1976367	NM_004656.4(BAP1):c.2180A>G (p.Lys727Arg)	BAP1 (K709R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 240056	NM_004656.4(BAP1):c.2091C>T (p.Ser697=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 240055	NM_004656.4(BAP1):c.2057-4G>T	BAP1	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2058746	NM_004656.4(BAP1):c.2057-10C>T	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome +1 more	GConflicting classifications of pathogenicity
Select item 472689	NM_004656.4(BAP1):c.2016T>C (p.Asp672=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 485250	NM_004656.4(BAP1):c.1951_1953del (p.Lys651del)	BAP1 (K651del)	Deletion (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 508493	NM_004656.4(BAP1):c.1947C>T (p.Cys649=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 472685	NM_004656.4(BAP1):c.1931C>T (p.Ala644Val)	BAP1 (A644V)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 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 133665	NM_004656.4(BAP1):c.1838C>T (p.Thr613Met)	BAP1 (T613M)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +4 more	GBenign/Likely benign
Select item 489628	NM_004656.4(BAP1):c.1810G>A (p.Val604Met)	BAP1 (V604M)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GConflicting classifications of pathogenicity
Select item 490815	NM_004656.4(BAP1):c.1805A>T (p.Glu602Val)	BAP1 (E602V)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GConflicting classifications of pathogenicity
Select item 485252	NM_004656.4(BAP1):c.1801A>G (p.Lys601Glu)	BAP1 (K601E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 485262	NM_004656.4(BAP1):c.1797G>A (p.Val599=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +2 more	GBenign/Likely benign
Select item 133664	NM_004656.4(BAP1):c.1786A>G (p.Ser596Gly)	BAP1 (S596G)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +4 more	GBenign
Select item 422219	NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter)	BAP1 (Q593*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
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 133666	NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg)	BAP1 (G579R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 573966	NM_004656.4(BAP1):c.1730-1G>A	BAP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 240050	NM_004656.4(BAP1):c.1729+8T>C	BAP1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
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 1778481	NM_004656.4(BAP1):c.1707G>A (p.Val569=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +2 more	GBenign/Likely benign
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 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 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 944932	NM_004656.4(BAP1):c.1450C>T (p.Pro484Ser)	BAP1 (P484S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 240048	NM_004656.4(BAP1):c.1427T>C (p.Val476Ala)	BAP1 (V476A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 346118	NM_004656.4(BAP1):c.1413T>G (p.Ala471=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 133663	NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg)	BAP1 (G470R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 240047	NM_004656.4(BAP1):c.1407C>T (p.Ser469=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 2682082	NM_004656.4(BAP1):c.1393A>C (p.Ile465Leu)	BAP1 (I447L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 412441	NM_004656.4(BAP1):c.1330A>G (p.Thr444Ala)	BAP1 (T444A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 417293	NM_004656.4(BAP1):c.1320G>A (p.Leu440=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 417291	NM_004656.4(BAP1):c.1308A>G (p.Gln436=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 412432	NM_004656.4(BAP1):c.1216G>A (p.Glu406Lys)	BAP1 (E406K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 818577	NM_004656.4(BAP1):c.1209T>C (p.Asp403=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +2 more	GBenign/Likely benign
Select item 2682080	NM_004656.4(BAP1):c.1206G>T (p.Glu402Asp)	BAP1 (E384D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1731263	NM_004656.4(BAP1):c.1140T>C (p.Gly380=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +2 more	GConflicting classifications of pathogenicity
Select item 472658	NM_004656.4(BAP1):c.1066C>T (p.Arg356Trp)	BAP1 (R356W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 240041	NM_004656.4(BAP1):c.1035G>C (p.Gly345=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 220780	NM_004656.4(BAP1):c.1026C>T (p.Ser342=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +5 more	GBenign/Likely benign
Select item 220641	NM_004656.4(BAP1):c.1002A>G (p.Leu334=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +4 more	GBenign/Likely benign
Select item 823202	NM_004656.4(BAP1):c.937G>A (p.Ala313Thr)	BAP1 (A313T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1492695	NM_004656.4(BAP1):c.934G>A (p.Gly312Ser)	BAP1 (G312S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 472718	NM_004656.4(BAP1):c.924C>T (p.Asn308=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 240068	NM_004656.4(BAP1):c.878C>T (p.Pro293Leu)	BAP1 (P293L)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +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)	not provided +2 more	GBenign/Likely benign
Select item 485268	NM_004656.4(BAP1):c.838C>A (p.Gln280Lys)	BAP1 (Q280K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1128849	NM_004656.4(BAP1):c.813T>A (p.Ile271=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +2 more	GLikely benign
Select item 240067	NM_004656.4(BAP1):c.783G>A (p.Gln261=)	BAP1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 2565173	NM_004656.4(BAP1):c.754_758dup (p.Gln253fs)	BAP1 (Q235fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 827124	NM_004656.4(BAP1):c.755G>A (p.Arg252His)	BAP1 (R252H)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2682100	NM_004656.4(BAP1):c.586_588delinsGGT (p.Trp196Gly)	BAP1 (W196G)	Indel (missense variant)	not provided	GUncertain significance
Select item 631263	NM_004656.4(BAP1):c.438-3C>T	BAP1	Single nucleotide variant (intron variant)	BAP1-related tumor predisposition syndrome +2 more	GUncertain significance
Select item 412437	NM_004656.4(BAP1):c.405G>A (p.Pro135=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 485248	NM_004656.4(BAP1):c.384A>C (p.Gly128=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +2 more	GBenign/Likely benign
Select item 240058	NM_004656.4(BAP1):c.376-4G>A	BAP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 346125	NM_004656.4(BAP1):c.341G>A (p.Arg114His)	BAP1 (R114H)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +3 more	GConflicting classifications of pathogenicity
Select item 630500	NM_004656.4(BAP1):c.316G>A (p.Val106Met)	BAP1 (V106M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 259517	NM_004656.4(BAP1):c.294C>T (p.Ser98=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 240057	NM_004656.4(BAP1):c.288G>A (p.Leu96=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 926920	NM_004656.4(BAP1):c.238A>G (p.Met80Val)	BAP1 (M80V)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GUncertain significance
Select item 820754	NM_004656.4(BAP1):c.211G>A (p.Val71Met)	BAP1 (V71M)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GUncertain significance
Select item 472682	NM_004656.4(BAP1):c.186C>T (p.Val62=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 240052	NM_004656.4(BAP1):c.177G>A (p.Arg59=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 472674	NM_004656.4(BAP1):c.162A>G (p.Glu54=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 659695	NM_004656.4(BAP1):c.129A>G (p.Val43=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 133667	NM_004656.4(BAP1):c.121G>A (p.Gly41Ser)	BAP1 (G41S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 346127	NM_004656.4(BAP1):c.-10C>T	BAP1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 980509	GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4	RRP9, SEMA3G +23 more	Copy number gain	not provided	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance

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Items: 71