"ITMI"[submitter] AND "BAP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 133662	NM_004656.4(BAP1):c.1325C>G (p.Pro442Arg)	BAP1 (P442R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133661	NM_004656.4(BAP1):c.905C>T (p.Pro302Leu)	BAP1 (P302L)	Single nucleotide variant (missense 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

ClinVar