Related gene-specific medical variations for Gene (Select 8314) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682100	NM_004656.4(BAP1):c.586_588delinsGGT (p.Trp196Gly)	BAP1 (W196G)	Indel (missense variant)	not provided	GUncertain significance
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 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 2679915	NM_004656.4(BAP1):c.993dup (p.Pro332fs)	BAP1 (P314fs +1 more)	Duplication (frameshift variant)	BAP1-related tumor predisposition syndrome	GLikely pathogenic
Select item 2679914	NM_004656.4(BAP1):c.119dup (p.Val43fs)	BAP1 (V43fs)	Duplication (frameshift variant)	BAP1-related tumor predisposition syndrome	GLikely pathogenic
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 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 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 2679907	NM_004656.4(BAP1):c.68G>C (p.Gly23Ala)	BAP1 (G23A)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2679905	NM_004656.4(BAP1):c.284C>G (p.Ala95Gly)	BAP1 (A95G)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2679904	NM_004656.4(BAP1):c.1204G>T (p.Glu402Ter)	BAP1 (E384* +1 more)	Single nucleotide variant (nonsense)	BAP1-related tumor predisposition syndrome	GLikely pathogenic
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 2679902	NM_004656.4(BAP1):c.695C>G (p.Ala232Gly)	BAP1 (A232G)	Single nucleotide variant (missense variant +1 more)	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 2679898	NM_004656.4(BAP1):c.341G>C (p.Arg114Pro)	BAP1 (R114P)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2679897	NM_004656.4(BAP1):c.769G>C (p.Glu257Gln)	BAP1 (E239Q +1 more)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2679896	NM_004656.4(BAP1):c.1189_1200dup (p.Asp400_Tyr401insAspGluAspAsp)	BAP1	Duplication (inframe insertion)	BAP1-related tumor predisposition syndrome	GUncertain significance
Select item 2679895	NM_004656.4(BAP1):c.1117G>A (p.Glu373Lys)	BAP1 (E355K +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 2576154	NM_004656.4(BAP1):c.2057-3C>G	BAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2429331	NM_004656.4(BAP1):c.687C>A (p.Asn229Lys)	BAP1 (N229K)	Single nucleotide variant (missense variant)	Kury-Isidor syndrome	GLikely pathogenic
Select item 1319081	NM_004656.4(BAP1):c.15G>C (p.Trp5Cys)	BAP1 (W5C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319080	NM_004656.4(BAP1):c.1816G>A (p.Ala606Thr)	BAP1 (A606T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319079	NM_004656.4(BAP1):c.1891-59C>A	BAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1319078	NM_004656.4(BAP1):c.323T>A (p.Leu108Gln)	BAP1 (L108Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013479	NM_004656.4(BAP1):c.993del (p.Lys331fs)	BAP1 (K331fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987163	NM_004656.4(BAP1):c.1459_1462del (p.Thr487fs)	BAP1 (T487fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 133662	NM_004656.4(BAP1):c.1325C>G (p.Pro442Arg)	BAP1 (P442R)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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Links from Gene

Items: 28