AP2B1[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147860	GRCh38/hg38 17q12(chr17:35129859-35767049)x3	AP2B1, C17orf50 +46 more	Copy number gain	See cases	GUncertain significance
Select item 2608395	NM_001030006.2(AP2B1):c.230C>G (p.Ala77Gly)	AP2B1 (A77G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 972958	NM_001030006.2(AP2B1):c.240G>T (p.Gln80His)	AP2B1 (Q80H)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2621842	NM_001030006.2(AP2B1):c.433G>A (p.Val145Met)	AP2B1 (V145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127502	NM_001030006.2(AP2B1):c.584A>G (p.Asn195Ser)	AP2B1 (N195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773590	NM_001030006.2(AP2B1):c.597G>A (p.Leu199=)	AP2B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2314895	NM_001030006.2(AP2B1):c.857C>T (p.Pro286Leu)	AP2B1 (P286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469907	NM_001030006.2(AP2B1):c.1699A>G (p.Ile567Val)	AP2B1 (I567V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409111	NM_001030006.2(AP2B1):c.1736A>G (p.Asn579Ser)	AP2B1 (N579S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127496	NM_001030006.2(AP2B1):c.1783A>G (p.Ile595Val)	AP2B1 (I595V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127497	NM_001030006.2(AP2B1):c.1831A>G (p.Thr611Ala)	AP2B1 (T611A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252335	NM_001030006.2(AP2B1):c.1831A>C (p.Thr611Pro)	AP2B1 (T611P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127498	NM_001030006.2(AP2B1):c.1843C>G (p.Leu615Val)	AP2B1 (L615V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295230	NM_001030006.2(AP2B1):c.2089C>T (p.Pro697Ser)	AP2B1 (P683S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300473	NM_001030006.2(AP2B1):c.2096T>C (p.Val699Ala)	AP2B1 (V699A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287354	NM_001030006.2(AP2B1):c.2143G>A (p.Gly715Ser)	AP2B1 (G715S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569981	NM_001030006.2(AP2B1):c.2168C>T (p.Ala723Val)	AP2B1 (A723V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482054	NM_001030006.2(AP2B1):c.2194G>A (p.Val732Ile)	AP2B1 (V718I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357530	NM_001030006.2(AP2B1):c.2230A>G (p.Thr744Ala)	AP2B1 (T730A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127499	NM_001030006.2(AP2B1):c.2567A>G (p.Lys856Arg)	AP2B1 (K842R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127500	NM_001030006.2(AP2B1):c.2644T>A (p.Leu882Met)	AP2B1 (L868M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127501	NM_001030006.2(AP2B1):c.2836G>C (p.Asp946His)	AP2B1 (D946H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243102	NC_000017.10:g.(?_33445500)_(34079869_?)del	AP2B1, FNDC8 +13 more	Deletion	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2684845	GRCh37/hg19 17q12(chr17:33769812-33983362)x3	AP2B1, PEX12 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684844	GRCh37/hg19 17q12(chr17:33758250-34082140)x3	AP2B1, GAS2L2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2422813	NC_000017.10:g.(?_33475283)_(34079869_?)dup	AP2B1, GAS2L2 +10 more	Duplication	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 1707622	GRCh37/hg19 17q12(chr17:33766040-34001896)x3	SLFN12, SLFN12L +4 more	Copy number gain	Isolated anorectal malformation	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564429	GRCh37/hg19 17q12(chr17:32351496-34455576)x1	AP2B1, ASIC2 +40 more	Copy number loss	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 33