AP3M2[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 154596	GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3	LOC130000285, LOC130000286 +122 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	ANK1, AP3M2 +121 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	DKK4, FNTA +86 more	Copy number gain	See cases	GPathogenic
Select item 3300787	NM_006803.4(AP3M2):c.143T>C (p.Val48Ala)	AP3M2 (V48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589371	NM_006803.4(AP3M2):c.163T>C (p.Tyr55His)	AP3M2 (Y55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278129	NM_006803.4(AP3M2):c.226C>G (p.Pro76Ala)	AP3M2 (P76A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300794	NM_006803.4(AP3M2):c.233T>G (p.Phe78Cys)	AP3M2 (F78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127532	NM_006803.4(AP3M2):c.460G>A (p.Gly154Ser)	AP3M2 (G154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300779	NM_006803.4(AP3M2):c.503G>A (p.Arg168Gln)	AP3M2 (R168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127533	NM_006803.4(AP3M2):c.596C>T (p.Thr199Ile)	AP3M2 (T199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590524	NM_006803.4(AP3M2):c.662C>G (p.Ser221Cys)	AP3M2 (S221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127534	NM_006803.4(AP3M2):c.670A>G (p.Asn224Asp)	AP3M2 (N224D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486754	NM_006803.4(AP3M2):c.727G>C (p.Glu243Gln)	AP3M2 (E243Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467684	NM_006803.4(AP3M2):c.741C>G (p.Ile247Met)	AP3M2 (I247M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127535	NM_006803.4(AP3M2):c.772C>T (p.Arg258Cys)	AP3M2 (R258C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221024	NM_006803.4(AP3M2):c.814A>G (p.Ile272Val)	AP3M2 (I272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127536	NM_006803.4(AP3M2):c.848G>A (p.Arg283Gln)	AP3M2 (R283Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248710	NM_006803.4(AP3M2):c.868C>T (p.Arg290Cys)	AP3M2 (R290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546299	NM_006803.4(AP3M2):c.897G>T (p.Gln299His)	AP3M2 (Q299H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127537	NM_006803.4(AP3M2):c.914T>C (p.Ile305Thr)	AP3M2 (I305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544180	NM_006803.4(AP3M2):c.985A>G (p.Thr329Ala)	AP3M2 (T329A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544181	NM_006803.4(AP3M2):c.986C>G (p.Thr329Arg)	AP3M2 (T329R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300768	NM_006803.4(AP3M2):c.1058G>A (p.Ser353Asn)	AP3M2 (S353N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2238307	NM_006803.4(AP3M2):c.1165G>A (p.Val389Met)	AP3M2 (V389M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245546	NC_000008.10:g.(?_41518984)_(42329908_?)dup	ANK1, AP3M2 +7 more	Duplication	not provided	GUncertain significance
Select item 3245544	NC_000008.10:g.(?_41518984)_(43054712_?)del	ANK1, AP3M2 +16 more	Deletion	not provided	GPathogenic
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 2425642	NC_000008.10:g.(?_41518984)_(43054712_?)dup	ANK1, AP3M2 +16 more	Duplication	Torsion dystonia 6	GUncertain significance
Select item 2424198	NC_000008.10:g.(?_41518984)_(42698237_?)dup	ANK1, AP3M2 +11 more	Duplication	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1061009	NC_000008.10:g.(?_41905876)_(42188497_?)dup	AP3M2, IKBKB +2 more	Duplication	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 688131	GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3	ADAM18, ADAM2 +54 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687703	GRCh37/hg19 8p11.21(chr8:41761813-42107108)x1	AP3M2, KAT6A +1 more	Copy number loss	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 394062	GRCh37/hg19 8p11.21-11.1(chr8:40690198-43388233)x3	ANK1, AP3M2 +23 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance

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Items: 75