"BAP1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 346108	NM_004656.4(BAP1):c.*643G>A	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related disorder +1 more	GBenign/Likely benign
Select item 3045859	NM_004656.4(BAP1):c.*641C>T	BAP1	Single nucleotide variant (3 prime UTR variant)	BAP1-related disorder	GUncertain significance
Select item 489630	NM_004656.4(BAP1):c.2005C>T (p.His669Tyr)	BAP1 (H669Y)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GUncertain significance
Select item 490827	NM_004656.4(BAP1):c.1968G>A (p.Lys656=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +2 more	GLikely benign
Select item 240054	NM_004656.4(BAP1):c.1962A>C (p.Val654=)	BAP1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 472685	NM_004656.4(BAP1):c.1931C>T (p.Ala644Val)	BAP1 (A644V)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +3 more	GConflicting classifications of pathogenicity
Select item 472683	NM_004656.4(BAP1):c.1872G>A (p.Gly624=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 620598	NM_004656.4(BAP1):c.1833G>C (p.Glu611Asp)	BAP1 (E611D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3029581	NM_004656.4(BAP1):c.1762C>T (p.Pro588Ser)	BAP1 (P570S +1 more)	Single nucleotide variant (missense variant)	BAP1-related disorder	GUncertain significance
Select item 240051	NM_004656.4(BAP1):c.1749G>A (p.Ser583=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 133666	NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg)	BAP1 (G579R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 567857	NM_004656.4(BAP1):c.1669A>G (p.Ile557Val)	BAP1 (I557V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 485277	NM_004656.4(BAP1):c.1634G>A (p.Arg545His)	BAP1 (R545H)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GUncertain significance
Select item 490797	NM_004656.4(BAP1):c.1523G>A (p.Arg508His)	BAP1 (R508H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 417274	NM_004656.4(BAP1):c.1485G>A (p.Thr495=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 240048	NM_004656.4(BAP1):c.1427T>C (p.Val476Ala)	BAP1 (V476A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1085458	NM_004656.4(BAP1):c.1410G>T (p.Gly470=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related disorder +2 more	GLikely benign
Select item 240047	NM_004656.4(BAP1):c.1407C>T (p.Ser469=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 628197	NM_004656.4(BAP1):c.1363T>C (p.Ser455Pro)	BAP1 (S455P)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 346119	NM_004656.4(BAP1):c.1338C>T (p.Asn446=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related disorder +3 more	GBenign/Likely benign
Select item 412441	NM_004656.4(BAP1):c.1330A>G (p.Thr444Ala)	BAP1 (T444A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 417291	NM_004656.4(BAP1):c.1308A>G (p.Gln436=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +3 more	GLikely benign
Select item 485276	NM_004656.4(BAP1):c.1227G>C (p.Val409=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 417275	NM_004656.4(BAP1):c.1224C>T (p.Asp408=)	BAP1	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 472663	NM_004656.4(BAP1):c.1219G>A (p.Asp407Asn)	BAP1 (D407N)	Single nucleotide variant (missense variant)	BAP1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 412428	NM_004656.4(BAP1):c.1201_1212del (p.Tyr401_Asp404del)	BAP1	Deletion (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 412427	NM_004656.4(BAP1):c.1212C>G (p.Asp404Glu)	BAP1 (D404E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 490773	NM_004656.4(BAP1):c.1134G>A (p.Ala378=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 346121	NM_004656.4(BAP1):c.931+10G>C	BAP1	Single nucleotide variant (intron variant)	BAP1-related disorder +2 more	GLikely benign
Select item 417294	NM_004656.4(BAP1):c.912C>A (p.Ala304=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related disorder +3 more	GBenign/Likely benign
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 417281	NM_004656.4(BAP1):c.879G>A (p.Pro293=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 472716	NM_004656.4(BAP1):c.869A>G (p.Asn290Ser)	BAP1 (N290S)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +3 more	GBenign/Likely benign
Select item 1013480	NM_004656.4(BAP1):c.787A>G (p.Ile263Val)	BAP1 (I263V)	Single nucleotide variant (missense variant)	BAP1-related disorder +3 more	GUncertain significance
Select item 240066	NM_004656.4(BAP1):c.779A>G (p.Gln260Arg)	BAP1 (Q260R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2633992	NM_004656.4(BAP1):c.719A>C (p.Lys240Thr)	BAP1 (K222T +1 more)	Single nucleotide variant (missense variant)	BAP1-related disorder	GUncertain significance
Select item 472712	NM_004656.4(BAP1):c.688C>T (p.Leu230=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +3 more	GLikely benign
Select item 417277	NM_004656.4(BAP1):c.672C>T (p.His224=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 3052998	NM_004656.4(BAP1):c.665_666del (p.Pro222fs)	BAP1 (P222fs)	Deletion (frameshift variant +1 more)	BAP1-related disorder	GPathogenic
Select item 472711	NM_004656.4(BAP1):c.649G>A (p.Ala217Thr)	BAP1 (A217T)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GUncertain significance
Select item 240062	NM_004656.4(BAP1):c.534C>T (p.Gly178=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 240061	NM_004656.4(BAP1):c.519T>C (p.Tyr173=)	BAP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1013481	NM_004656.4(BAP1):c.459T>C (p.Pro153=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +2 more	GLikely benign
Select item 240058	NM_004656.4(BAP1):c.376-4G>A	BAP1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 417284	NM_004656.4(BAP1):c.315C>T (p.Ser105=)	BAP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 490849	NM_004656.4(BAP1):c.240G>T (p.Met80Ile)	BAP1 (M80I)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +3 more	GUncertain significance
Select item 472682	NM_004656.4(BAP1):c.186C>T (p.Val62=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome +3 more	GConflicting classifications of pathogenicity
Select item 628343	NM_004656.4(BAP1):c.175C>T (p.Arg59Trp)	BAP1 (R59W)	Single nucleotide variant (missense variant)	BAP1-related disorder +2 more	GUncertain significance
Select item 133667	NM_004656.4(BAP1):c.121G>A (p.Gly41Ser)	BAP1 (G41S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign

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Items: 49