"Ambry Genetics"[submitter] AND "BCL2L12"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3133400	NM_138639.1(BCL2L12):c.40T>C (p.Phe14Leu)	BCL2L12, LOC130064935 (F14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400949	NM_138639.1(BCL2L12):c.95C>T (p.Ala32Val)	BCL2L12, LOC130064935 (A32V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308682	NM_138639.2(BCL2L12):c.-135C>T	BCL2L12, LOC130064935 (R40C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3133397	NM_138639.2(BCL2L12):c.-128C>T	BCL2L12, LOC130064935 (A42V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2601038	NM_138639.2(BCL2L12):c.-126G>C	BCL2L12, LOC130064935 (G43R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2388068	NM_138639.2(BCL2L12):c.-123T>A	BCL2L12, LOC130064935 (Y44N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2319399	NM_138639.2(BCL2L12):c.-35G>C	BCL2L12, LOC130064936 (R73T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2476936	NM_138639.2(BCL2L12):c.-24T>C	BCL2L12, LOC130064936 (W77R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3133398	NM_138639.2(BCL2L12):c.113C>T (p.Pro38Leu)	BCL2L12 (P38L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237364	NM_138639.2(BCL2L12):c.122A>G (p.Glu41Gly)	BCL2L12 (E41G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133399	NM_138639.2(BCL2L12):c.152G>C (p.Arg51Pro)	BCL2L12 (R51P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220043	NM_138639.2(BCL2L12):c.236A>G (p.Tyr79Cys)	BCL2L12 (Y79C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524252	NM_138639.2(BCL2L12):c.301C>G (p.Leu101Val)	BCL2L12 (L101V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2212707	NM_138639.2(BCL2L12):c.326C>T (p.Pro109Leu)	BCL2L12 (P109L +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2297684	NM_138639.2(BCL2L12):c.379C>T (p.Arg127Trp)	BCL2L12 (R126W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2597490	NM_138639.2(BCL2L12):c.380G>A (p.Arg127Gln)	BCL2L12 (R127Q +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2485899	NM_138639.2(BCL2L12):c.463G>T (p.Val155Phe)	BCL2L12 (V154F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328928	NM_138639.2(BCL2L12):c.518A>T (p.Asp173Val)	BCL2L12 (D173V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133401	NM_138639.2(BCL2L12):c.553C>T (p.Pro185Ser)	BCL2L12 (P184S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378695	NM_138639.2(BCL2L12):c.553C>A (p.Pro185Thr)	BCL2L12 (P184T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2326326	NM_138639.2(BCL2L12):c.596C>A (p.Ala199Asp)	BCL2L12 (A198D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330216	NM_138639.2(BCL2L12):c.650G>A (p.Ser217Asn)	BCL2L12 (S216N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330217	NM_138639.2(BCL2L12):c.651C>A (p.Ser217Arg)	BCL2L12 (S217R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382445	NM_138639.2(BCL2L12):c.670T>C (p.Phe224Leu)	BCL2L12 (F223L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133402	NM_138639.2(BCL2L12):c.688G>T (p.Ala230Ser)	BCL2L12 (A229S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133403	NM_138639.2(BCL2L12):c.727G>A (p.Val243Met)	BCL2L12 (V152M +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 26