BCL2L12[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 147632	GRCh38/hg38 19q13.33(chr19:49623273-49747363)x3	ADM5, BCL2L12 +17 more	Copy number gain	See cases	GBenign
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
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 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 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 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 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 2237364	NM_138639.2(BCL2L12):c.122A>G (p.Glu41Gly)	BCL2L12 (E41G +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2597490	NM_138639.2(BCL2L12):c.380G>A (p.Arg127Gln)	BCL2L12 (R127Q +1 more)	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	PTOV1-AS2, SLC17A7 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 33