BCL2L15[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 3260657	NM_001010922.3(BCL2L15):c.453C>A (p.Phe151Leu)	AP4B1-AS1, BCL2L15 (F151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241928	NM_001010922.3(BCL2L15):c.307G>A (p.Asp103Asn)	AP4B1-AS1, BCL2L15 (D103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133421	NM_001010922.3(BCL2L15):c.214G>T (p.Ala72Ser)	AP4B1-AS1, BCL2L15 (A72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260656	NM_001010922.3(BCL2L15):c.158T>C (p.Ile53Thr)	AP4B1-AS1, BCL2L15 (I53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597735	NM_001010922.3(BCL2L15):c.148G>A (p.Val50Met)	AP4B1-AS1, BCL2L15 (V50M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133422	NM_001010922.3(BCL2L15):c.77C>T (p.Thr26Ile)	AP4B1-AS1, BCL2L15 (T26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287700	NM_001010922.3(BCL2L15):c.37T>A (p.Cys13Ser)	AP4B1-AS1, BCL2L15 (C13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685819	GRCh37/hg19 1p13.2(chr1:114121742-114665485)x3	BCL2L15, DCLRE1B +8 more	Copy number gain	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	CSDE1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 814118	GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1	VANGL1, TSHB +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441879	GRCh37/hg19 1p13.2(chr1:114011163-114803749)x3	AP4B1, BCL2L15 +8 more	Copy number gain	See cases	GUncertain significance

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Items: 22