AP1M2[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 2406249	NM_005498.5(AP1M2):c.1213G>A (p.Ala405Thr)	AP1M2 (A405T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248536	NM_005498.5(AP1M2):c.1183A>C (p.Met395Leu)	AP1M2 (M397L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371597	NM_005498.5(AP1M2):c.1124C>G (p.Pro375Arg)	AP1M2 (P375R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127464	NM_005498.5(AP1M2):c.1121C>A (p.Pro374His)	AP1M2 (P376H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610626	NM_005498.5(AP1M2):c.1048G>A (p.Gly350Arg)	AP1M2 (G352R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300396	NM_005498.5(AP1M2):c.1043T>C (p.Phe348Ser)	AP1M2 (F348S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328111	NM_005498.5(AP1M2):c.992G>C (p.Ser331Thr)	AP1M2 (S331T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300378	NM_005498.5(AP1M2):c.925G>A (p.Gly309Ser)	AP1M2 (G311S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300386	NM_005498.5(AP1M2):c.751C>T (p.Arg251Cys)	AP1M2 (R253C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378197	NM_005498.5(AP1M2):c.653T>G (p.Val218Gly)	AP1M2 (V218G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407097	NM_005498.5(AP1M2):c.652G>A (p.Val218Met)	AP1M2 (V218M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213168	NM_005498.5(AP1M2):c.586G>A (p.Gly196Ser)	AP1M2 (G196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127475	NM_005498.5(AP1M2):c.559G>A (p.Gly187Ser)	AP1M2 (G187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127474	NM_005498.5(AP1M2):c.488G>A (p.Gly163Asp)	AP1M2 (G163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127473	NM_005498.5(AP1M2):c.473C>A (p.Ser158Tyr)	AP1M2 (S158Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127472	NM_005498.5(AP1M2):c.449C>T (p.Pro150Leu)	AP1M2 (P150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127471	NM_005498.5(AP1M2):c.445G>A (p.Val149Met)	AP1M2 (V149M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513439	NM_005498.5(AP1M2):c.443G>A (p.Arg148Gln)	AP1M2 (R148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127470	NM_005498.5(AP1M2):c.442C>T (p.Arg148Trp)	AP1M2 (R148W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127468	NM_005498.5(AP1M2):c.354G>C (p.Met118Ile)	AP1M2 (M118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221841	NM_005498.5(AP1M2):c.311G>A (p.Arg104Gln)	AP1M2 (R104Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127466	NM_005498.5(AP1M2):c.170T>G (p.Phe57Cys)	AP1M2 (F57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127465	NM_005498.5(AP1M2):c.156C>G (p.His52Gln)	AP1M2 (H52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470061	NM_005498.5(AP1M2):c.70G>A (p.Asp24Asn)	AP1M2 (D24N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351774	NM_005498.5(AP1M2):c.55C>T (p.Arg19Cys)	AP1M2 (R19C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127467	NM_005498.5(AP1M2):c.31G>A (p.Val11Ile)	AP1M2 (V11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127476	NM_005498.5(AP1M2):c.8C>T (p.Ala3Val)	AP1M2 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550262	NM_005498.5(AP1M2):c.4T>G (p.Ser2Ala)	AP1M2 (S2A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248458	NC_000019.9:g.(?_10461510)_(10941723_?)dup	AP1M2, ATG4D +12 more	Duplication	Immunodeficiency 35	GUncertain significance
Select item 3248376	NC_000019.9:g.(?_10244343)_(11231218_?)del	AP1M2, ATG4D +29 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684884	GRCh37/hg19 19p13.2(chr19:10477778-11154144)x3	AP1M2, ATG4D +18 more	Copy number gain	not provided	GUncertain significance
Select item 2498798	GRCh37/hg19 19p13.2(chr19:10624491-10969019)x3	ILF3, AP1M2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1526655	GRCh37/hg19 19p13.2(chr19:10584393-10938252)	MIR199A1, SLC44A2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816065	GRCh37/hg19 19p13.2(chr19:10632623-11135294)x3	AP1M2, QTRT1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 688450	GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1	CDKN2D, DNM2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	AP1M2, ATG4D +27 more	Copy number loss	See cases	GPathogenic

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Items: 49