PLPP7[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 59909	GRCh38/hg38 9q34.13(chr9:131261516-131741175)x3	RAPGEF1, SNORD62A +57 more	Copy number gain	See cases	GPathogenic
Select item 3215403	NM_032728.4(PLPP7):c.32G>A (p.Arg11Gln)	PLPP7 (R11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367392	NM_032728.4(PLPP7):c.47T>A (p.Val16Asp)	PLPP7 (V16D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307830	NM_032728.4(PLPP7):c.55C>T (p.Arg19Trp)	PLPP7 (R19W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335634	NM_032728.4(PLPP7):c.98C>T (p.Pro33Leu)	PLPP7 (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331737	NM_032728.4(PLPP7):c.139G>T (p.Ala47Ser)	PLPP7 (A47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527807	NM_032728.4(PLPP7):c.145C>T (p.Pro49Ser)	PLPP7 (P49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307829	NM_032728.4(PLPP7):c.176G>A (p.Arg59Gln)	PLPP7 (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242165	NM_032728.4(PLPP7):c.178C>T (p.Arg60Cys)	PLPP7 (R60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220903	NM_032728.4(PLPP7):c.179G>A (p.Arg60His)	PLPP7 (R60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385642	NM_032728.4(PLPP7):c.217C>G (p.Leu73Val)	PLPP7 (L73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280389	NM_032728.4(PLPP7):c.236G>A (p.Gly79Asp)	PLPP7 (G79D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300121	NM_032728.4(PLPP7):c.270C>G (p.Ile90Met)	PLPP7 (I90M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307832	NM_032728.4(PLPP7):c.304C>T (p.Arg102Trp)	PLPP7 (R102W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389703	NM_032728.4(PLPP7):c.334A>G (p.Met112Val)	PLPP7 (M112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596675	NM_032728.4(PLPP7):c.349G>A (p.Gly117Ser)	PLPP7 (G117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485641	NM_032728.4(PLPP7):c.356C>T (p.Thr119Met)	PLPP7 (T119M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539363	NM_032728.4(PLPP7):c.379G>A (p.Gly127Arg)	PLPP7 (G127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307833	NM_032728.4(PLPP7):c.457C>T (p.Leu153Phe)	PLPP7 (L153F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215404	NM_032728.4(PLPP7):c.481G>A (p.Gly161Ser)	PLPP7 (G161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394254	NM_032728.4(PLPP7):c.484G>A (p.Val162Met)	PLPP7 (V162M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307834	NM_032728.4(PLPP7):c.492G>T (p.Lys164Asn)	PLPP7 (K164N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474234	NM_032728.4(PLPP7):c.493C>T (p.Leu165Phe)	PLPP7 (L165F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525682	NM_032728.4(PLPP7):c.497T>C (p.Ile166Thr)	PLPP7 (I166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325663	NM_032728.4(PLPP7):c.503G>A (p.Arg168Gln)	PLPP7 (R168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209155	NM_032728.4(PLPP7):c.586C>T (p.Arg196Cys)	PLPP7 (R196C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215405	NM_032728.4(PLPP7):c.601T>A (p.Ser201Thr)	PLPP7 (S201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494169	NM_032728.4(PLPP7):c.609C>G (p.Phe203Leu)	PLPP7 (F203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227784	NM_032728.4(PLPP7):c.644G>A (p.Arg215His)	PLPP7 (R215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591050	NM_032728.4(PLPP7):c.667C>T (p.Leu223Phe)	PLPP7 (L223F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509114	NM_032728.4(PLPP7):c.686G>A (p.Arg229His)	PLPP7 (R229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307831	NM_032728.4(PLPP7):c.713C>T (p.Thr238Met)	PLPP7 (T238M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215406	NM_032728.4(PLPP7):c.786C>A (p.Ser262Arg)	PLPP7 (S262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2425485	NC_000009.11:g.(?_133884602)_(135942612_?)dup	AIF1L, AK8 +21 more	Duplication	not provided	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1445318	NC_000009.11:g.(?_133901652)_(134398493_?)dup	AIF1L, FAM78A +5 more	Duplication	not provided	GUncertain significance
Select item 979880	GRCh37/hg19 9q34.12-34.13(chr9:133860060-134187480)x3	AIF1L, LAMC3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 830950	NC_000009.12:g.(?_130664644)_(131523116_?)dup	ABL1, AIF1L +10 more	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GUncertain significance
Select item 815301	GRCh37/hg19 9q34.13(chr9:134035433-134400804)x3	FAM78A, PLPP7 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687819	GRCh37/hg19 9q34.13(chr9:134169212-134389762)x3	PLPP7, POMT1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 625553	GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	ABL1, AIF1L +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 71