APPBP2[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 57542	GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1	APPBP2, APPBP2-DT +61 more	Copy number loss	See cases	GPathogenic
Select item 57455	GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1	APPBP2, APPBP2-DT +56 more	Copy number loss	See cases	GPathogenic
Select item 146527	GRCh38/hg38 17q23.2(chr17:60255192-62237942)x1	APPBP2, APPBP2-DT +49 more	Copy number loss	See cases	GPathogenic
Select item 3128070	NM_006380.5(APPBP2):c.1739T>C (p.Val580Ala)	APPBP2 (V509A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623019	NM_006380.5(APPBP2):c.1711G>C (p.Val571Leu)	APPBP2 (V571L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128069	NM_006380.5(APPBP2):c.1678G>A (p.Val560Ile)	APPBP2 (V489I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204909	NM_006380.5(APPBP2):c.1634G>A (p.Arg545Gln)	APPBP2 (R545Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128073	NM_006380.5(APPBP2):c.815C>G (p.Ala272Gly)	APPBP2 (A201G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307661	NM_006380.5(APPBP2):c.722C>G (p.Pro241Arg)	APPBP2 (P241R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466011	NM_006380.5(APPBP2):c.469C>T (p.Leu157Phe)	APPBP2 (L86F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128071	NM_006380.5(APPBP2):c.460G>A (p.Asp154Asn)	APPBP2 (D83N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346935	NM_006380.5(APPBP2):c.230A>G (p.His77Arg)	APPBP2 (H77R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128072	NM_006380.5(APPBP2):c.80G>A (p.Arg27His)	APPBP2 (R27H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 2685604	GRCh37/hg19 17q23.1-23.2(chr17:58111095-60355640)x1	APPBP2, BCAS3 +12 more	Copy number loss	not provided	GPathogenic
Select item 2424709	NC_000017.10:g.(?_58227396)_(59938900_?)del	APPBP2, BCAS3 +9 more	Deletion	not provided	GUncertain significance
Select item 2423351	NC_000017.10:g.(?_58227396)_(59938900_?)dup	APPBP2, BCAS3 +9 more	Duplication	not provided	GUncertain significance
Select item 1703621	GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067)	APPBP2, BCAS3 +12 more	Copy number gain	Familial clubfoot due to 17q23.1q23.2 microduplication	GLikely pathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1340823	GRCh37/hg19 17q23.1-23.2(chr17:57605300-59389547)x1	APPBP2, BCAS3 +13 more	Copy number loss	not provided	GPathogenic
Select item 974763	NC_000017.10:g.58076721_60362868del	BCAS3, USP32 +12 more	Deletion	Megacolon	GLikely pathogenic
Select item 688153	GRCh37/hg19 17q23.2(chr17:58345523-58736414)x3	APPBP2, CHCT1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625757	GRCh37/hg19 17q23.1-23.2(chr17:58121190-60140614)	APPBP2, BCAS3 +12 more	Copy number gain	not provided	GLikely pathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 624475	GRCh37/hg19 17q23.2(chr17:58390128-58589055)x3	CHCT1, APPBP2 +1 more	Copy number gain	not provided	GLikely benign
Select item 564458	GRCh37/hg19 17q23.2(chr17:58521331-58916828)x3	BCAS3, APPBP2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564457	GRCh37/hg19 17q23.2(chr17:58388728-60486746)x1	BCAS3, LINC02875 +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 443558	GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	APPBP2, BCAS3 +29 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic

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Items: 36