BIRC2[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 147688	GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3	ANGPTL5, BIRC2 +73 more	Copy number gain	See cases	GPathogenic
Select item 58187	GRCh38/hg38 11q22.1-22.2(chr11:102130109-102368261)x3	BIRC2, BIRC3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 2479238	NM_001166.5(BIRC2):c.40T>G (p.Ser14Ala)	BIRC2 (S14A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370656	NM_001166.5(BIRC2):c.41C>T (p.Ser14Leu)	BIRC2 (S14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206710	NM_001166.5(BIRC2):c.77C>T (p.Thr26Met)	BIRC2 (T26M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134011	NM_001166.5(BIRC2):c.110A>C (p.Gln37Pro)	BIRC2 (Q37P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134014	NM_001166.5(BIRC2):c.163A>C (p.Thr55Pro)	BIRC2 (T6P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548167	NM_001166.5(BIRC2):c.163A>G (p.Thr55Ala)	BIRC2 (T55A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3260947	NM_001166.5(BIRC2):c.172G>T (p.Ala58Ser)	BIRC2 (A58S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406625	NM_001166.5(BIRC2):c.254G>T (p.Cys85Phe)	BIRC2 (C36F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307383	NM_001166.5(BIRC2):c.343A>C (p.Asn115His)	BIRC2 (N115H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271015	NM_001166.5(BIRC2):c.379A>T (p.Asn127Tyr)	BIRC2 (N127Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134017	NM_001166.5(BIRC2):c.417A>T (p.Leu139Phe)	BIRC2 (L139F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642319	NM_001166.5(BIRC2):c.417A>G (p.Leu139=)	BIRC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3134018	NM_001166.5(BIRC2):c.425C>T (p.Thr142Ile)	BIRC2 (T142I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331661	NM_001166.5(BIRC2):c.503A>G (p.Asp168Gly)	BIRC2 (D168G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260950	NM_001166.5(BIRC2):c.530A>G (p.Tyr177Cys)	BIRC2 (Y128C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293688	NM_001166.5(BIRC2):c.542T>C (p.Met181Thr)	BIRC2 (M132T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589615	NM_001166.5(BIRC2):c.556G>A (p.Ala186Thr)	BIRC2 (A137T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254492	NM_001166.5(BIRC2):c.586T>G (p.Leu196Val)	BIRC2 (L196V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311093	NM_001166.5(BIRC2):c.700G>C (p.Asp234His)	BIRC2 (D234H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231583	NM_001166.5(BIRC2):c.704A>T (p.Asp235Val)	BIRC2 (D186V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393162	NM_001166.5(BIRC2):c.722G>A (p.Arg241Gln)	BIRC2 (R192Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134019	NM_001166.5(BIRC2):c.733C>G (p.Pro245Ala)	BIRC2 (P196A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260951	NM_001166.5(BIRC2):c.850C>T (p.Pro284Ser)	BIRC2 (P284S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134020	NM_001166.5(BIRC2):c.898C>T (p.Arg300Cys)	BIRC2 (R300C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328007	NM_001166.5(BIRC2):c.1012C>G (p.Arg338Gly)	BIRC2 (R338G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260948	NM_001166.5(BIRC2):c.1013G>A (p.Arg338Gln)	BIRC2 (R338Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245303	NM_001166.5(BIRC2):c.1028A>G (p.Glu343Gly)	BIRC2 (E294G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622802	NM_001166.5(BIRC2):c.1097C>G (p.Thr366Ser)	BIRC2 (T317S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214875	NM_001166.5(BIRC2):c.1127T>C (p.Ile376Thr)	BIRC2 (I327T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134012	NM_001166.5(BIRC2):c.1252C>G (p.Leu418Val)	BIRC2 (L369V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593459	NM_001166.5(BIRC2):c.1384C>T (p.Arg462Trp)	BIRC2 (R413W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260946	NM_001166.5(BIRC2):c.1385G>A (p.Arg462Gln)	BIRC2 (R462Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540000	NM_001166.5(BIRC2):c.1402C>T (p.Leu468Phe)	BIRC2 (L468F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570340	NM_001166.5(BIRC2):c.1426C>T (p.Leu476Phe)	BIRC2 (L427F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215557	NM_001166.5(BIRC2):c.1457A>G (p.Asn486Ser)	BIRC2 (N437S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134013	NM_001166.5(BIRC2):c.1460T>C (p.Val487Ala)	BIRC2 (V487A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1261128	NM_001166.5(BIRC2):c.1517C>T (p.Ala506Val)	BIRC2 (A457V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3044936	NM_001166.5(BIRC2):c.1546A>G (p.Lys516Glu)	BIRC2 (K467E +1 more)	Single nucleotide variant (missense variant)	BIRC2-related disorder	GLikely benign
Select item 3260949	NM_001166.5(BIRC2):c.1598C>G (p.Ser533Cys)	BIRC2 (S484C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134015	NM_001166.5(BIRC2):c.1645C>T (p.Pro549Ser)	BIRC2 (P549S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253206	NM_001166.5(BIRC2):c.1706G>A (p.Arg569Gln)	BIRC2 (R569Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134016	NM_001166.5(BIRC2):c.1730A>G (p.Lys577Arg)	BIRC2 (K577R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365875	NM_001166.5(BIRC2):c.1768G>A (p.Val590Ile)	BIRC2 (V590I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260945	NM_001166.5(BIRC2):c.1810A>G (p.Ile604Val)	BIRC2 (I555V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684654	GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3	ANGPTL5, ARHGAP42 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	not provided	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1807932	GRCh37/hg19 11q22.1-22.3(chr11:99059204-103281943)x3	ANGPTL5, ARHGAP42 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1807796	GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1	ANGPTL5, ARHGAP42 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1455268	NC_000011.9:g.(?_101323686)_(103349981_?)del	ANGPTL5, BIRC2 +17 more	Deletion	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 442680	GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1	ANGPTL5, ARHGAP42 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 395248	GRCh37/hg19 11q22.2(chr11:102249285-102323664)x3	BIRC2, TMEM123	Copy number gain	See cases	GLikely benign
Select item 253931	GRCh37/hg19 11q22.1-22.2(chr11:102064452-102249344)x3	YAP1, BIRC2 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 70