Related gene-specific medical variations for Gene (Select 55193) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2497711	NM_001405607.1(PBRM1):c.3999G>T (p.Glu1333Asp)	PBRM1 (E1255D +33 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 425296	NM_001405607.1(PBRM1):c.4792C>T (p.Pro1598Ser)	PBRM1 (P1476S +50 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 135011	NM_001405607.1(PBRM1):c.736C>A (p.His246Asn)	PBRM1 (H246N +10 more)	Single nucleotide variant (missense variant +3 more)	not specified	Gnot provided
Select item 135010	NM_001405607.1(PBRM1):c.409G>T (p.Ala137Ser)	PBRM1 (A137S +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	Gnot provided
Select item 135009	NM_001405607.1(PBRM1):c.4954G>A (p.Asp1652Asn)	PBRM1 (D1530N +48 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 135008	NM_001405607.1(PBRM1):c.4901C>T (p.Ala1634Val)	PBRM1 (A1512V +50 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 135007	NM_001405607.1(PBRM1):c.2861G>T (p.Gly954Val)	PBRM1 (G939V +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 135006	NM_001405607.1(PBRM1):c.1097A>G (p.Tyr366Cys)	PBRM1 (Y366C +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 135005	NM_001405607.1(PBRM1):c.998A>G (p.Asn333Ser)	PBRM1 (N333S +15 more)	Single nucleotide variant (missense variant +3 more)	not specified	Gnot provided
Select item 133373	NM_001405607.1(PBRM1):c.1544A>G (p.Asn515Ser)	PBRM1 (N536S +3 more)	Single nucleotide variant (intron variant +2 more)	not specified	Gnot provided