"Fulgent Genetics, Fulgent Genetics"[submitter] AND "BAP1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 918492	NM_004656.4(BAP1):c.1740G>C (p.Lys580Asn)	BAP1 (K580N)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +3 more	GUncertain significance
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 575932	NM_004656.4(BAP1):c.1619G>A (p.Arg540His)	BAP1 (R540H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 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 240043	NM_004656.4(BAP1):c.1217A>T (p.Glu406Val)	BAP1 (E406V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 485287	NM_004656.4(BAP1):c.1201_1203delinsGAG (p.Tyr401Glu)	BAP1 (Y401E)	Indel (missense variant)	Kury-Isidor syndrome +3 more	GConflicting classifications of pathogenicity
Select item 584648	NM_004656.4(BAP1):c.1201T>G (p.Tyr401Asp)	BAP1 (Y401D)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GUncertain significance
Select item 412416	NM_004656.4(BAP1):c.1179G>T (p.Gln393His)	BAP1 (Q393H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 240042	NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys)	BAP1 (R383C)	Single nucleotide variant (missense variant)	Medulloblastoma +4 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 539908	NM_004656.4(BAP1):c.982C>G (p.Pro328Ala)	BAP1 (P328A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 472719	NM_004656.4(BAP1):c.931+8G>A	BAP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely 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 489633	NM_004656.4(BAP1):c.340C>T (p.Arg114Cys)	BAP1 (R114C)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +3 more	GConflicting classifications of pathogenicity
Select item 988095	NM_004656.4(BAP1):c.271T>C (p.Cys91Arg)	BAP1 (C91R)	Single nucleotide variant (missense variant)	BAP1-associated neurodevelopmental disorder +3 more	GConflicting classifications of pathogenicity
Select item 489632	NM_004656.4(BAP1):c.227T>C (p.Ile76Thr)	BAP1 (I76T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance