Related gene-specific medical variations for Gene (Select 83596) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2601038	NM_138639.2(BCL2L12):c.-126G>C	BCL2L12, LOC130064935 (G43R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2476936	NM_138639.2(BCL2L12):c.-24T>C	BCL2L12, LOC130064936 (W77R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2400949	NM_138639.1(BCL2L12):c.95C>T (p.Ala32Val)	BCL2L12, LOC130064935 (A32V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388068	NM_138639.2(BCL2L12):c.-123T>A	BCL2L12, LOC130064935 (Y44N)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2319399	NM_138639.2(BCL2L12):c.-35G>C	BCL2L12, LOC130064936 (R73T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2308682	NM_138639.2(BCL2L12):c.-135C>T	BCL2L12, LOC130064935 (R40C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 376373	NM_001571.5(IRF3):c.-253G>A	BCL2L12, LOC130064935 (R18W)	Single nucleotide variant (missense variant +1 more)	Squamous cell carcinoma of the skin +1 more	GLikely pathogenic

ClinVar