Related gene-specific medical variations for Gene (Select 8915) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2913214	NM_003921.5(BCL10):c.12C>T (p.Thr4=)	BCL10, LOC126805771	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 2893007	NM_003921.5(BCL10):c.54G>A (p.Lys18=)	BCL10, LOC126805771	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 2717342	NM_003921.5(BCL10):c.14C>G (p.Ala5Gly)	BCL10, LOC126805771 (A5G)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 2126410	NM_003921.5(BCL10):c.20C>G (p.Ser7Cys)	BCL10, LOC126805771 (S7C)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 2085163	NM_003921.5(BCL10):c.57+13G>A	BCL10, LOC126805771	Single nucleotide variant (intron variant)	Immunodeficiency 37	GLikely benign
Select item 2032965	NM_003921.5(BCL10):c.57+16G>A	BCL10, LOC126805771	Single nucleotide variant (intron variant)	Immunodeficiency 37	GLikely benign
Select item 1996333	NM_003921.5(BCL10):c.1A>T (p.Met1Leu)	BCL10, LOC126805771 (M1L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 37	GUncertain significance
Select item 1968159	NM_003921.5(BCL10):c.14dup (p.Pro6fs)	BCL10, LOC126805771 (P6fs)	Duplication (frameshift variant)	Immunodeficiency 37	GPathogenic
Select item 1467639	NM_003921.5(BCL10):c.28G>A (p.Glu10Lys)	BCL10, LOC126805771 (E10K)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 1168245	NM_003921.5(BCL10):c.57+11C>G	BCL10, LOC126805771	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1151499	NM_003921.5(BCL10):c.33G>A (p.Glu11=)	BCL10, LOC126805771	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 1096787	NM_003921.5(BCL10):c.27C>T (p.Thr9=)	BCL10, LOC126805771	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 798750	NM_003921.5(BCL10):c.42T>A (p.Thr14=)	LOC126805771, BCL10	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 753291	NM_003921.5(BCL10):c.57+9C>T	BCL10, LOC126805771	Single nucleotide variant (intron variant)	Immunodeficiency 37	GLikely benign
Select item 542067	NM_003921.5(BCL10):c.6G>A (p.Glu2=)	BCL10, LOC126805771	Single nucleotide variant (synonymous variant)	Immunodeficiency 37	GLikely benign
Select item 475271	NM_003921.5(BCL10):c.13G>T (p.Ala5Ser)	BCL10, LOC126805771 (A5S)	Single nucleotide variant (missense variant)	Immunodeficiency 37 +1 more	GBenign
Select item 402411	NM_003921.5(BCL10):c.24C>G (p.Leu8=)	BCL10, LOC126805771	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 160347	NM_003921.5(BCL10):c.57+1G>A	BCL10, LOC126805771	Single nucleotide variant (splice donor variant)	Immunodeficiency 37	GPathogenic