PLPPR3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	STK11, TCF3 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	LOC130062964, LOC130062965 +321 more	Copy number gain	See cases	GPathogenic
Select item 57441	GRCh38/hg38 19p13.3(chr19:259395-819679)x3	BSG, BSG-AS1 +74 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	LOC130062905, LOC130062906 +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 60231	GRCh38/hg38 19p13.3(chr19:677680-899104)x3	AZU1, CFD +25 more	Copy number gain	See cases	GUncertain significance
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 3215426	NM_001270366.2(PLPPR3):c.2138C>T (p.Ala713Val)	PLPPR3 (A741V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325036	NM_001270366.2(PLPPR3):c.2132T>A (p.Met711Lys)	PLPPR3 (M711K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519040	NM_001270366.2(PLPPR3):c.2078T>C (p.Leu693Pro)	PLPPR3 (L693P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215425	NM_001270366.2(PLPPR3):c.2045G>C (p.Arg682Pro)	PLPPR3 (R682P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382152	NM_001270366.2(PLPPR3):c.2036C>T (p.Pro679Leu)	PLPPR3 (P707L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215424	NM_001270366.2(PLPPR3):c.2027C>A (p.Ala676Glu)	PLPPR3 (A704E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616074	NM_001270366.2(PLPPR3):c.2015C>T (p.Ala672Val)	PLPPR3 (A672V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539065	NM_001270366.2(PLPPR3):c.2005C>T (p.Pro669Ser)	PLPPR3 (P697S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402396	NM_001270366.2(PLPPR3):c.2002C>G (p.Pro668Ala)	PLPPR3 (P668A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215423	NM_001270366.2(PLPPR3):c.1988C>T (p.Thr663Met)	PLPPR3 (T663M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215422	NM_001270366.2(PLPPR3):c.1987A>G (p.Thr663Ala)	PLPPR3 (T663A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215421	NM_001270366.2(PLPPR3):c.1948G>C (p.Glu650Gln)	PLPPR3 (E678Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406191	NM_001270366.2(PLPPR3):c.1907G>C (p.Gly636Ala)	PLPPR3 (G636A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544799	NM_001270366.2(PLPPR3):c.1904C>G (p.Pro635Arg)	PLPPR3 (P635R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215420	NM_001270366.2(PLPPR3):c.1880G>A (p.Gly627Asp)	PLPPR3 (G655D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318324	NM_001270366.2(PLPPR3):c.1809G>C (p.Glu603Asp)	PLPPR3 (E603D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380254	NM_001270366.2(PLPPR3):c.1781A>G (p.His594Arg)	PLPPR3 (H594R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284491	NM_001270366.2(PLPPR3):c.1756C>T (p.His586Tyr)	PLPPR3 (H586Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521186	NM_001270366.2(PLPPR3):c.1744A>G (p.Thr582Ala)	PLPPR3 (T610A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302265	NM_001270366.2(PLPPR3):c.1715C>T (p.Pro572Leu)	PLPPR3 (P572L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215419	NM_001270366.2(PLPPR3):c.1700C>T (p.Ser567Leu)	PLPPR3 (S567L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509463	NM_001270366.2(PLPPR3):c.1673C>T (p.Ser558Leu)	PLPPR3 (S558L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554880	NM_001270366.2(PLPPR3):c.1597C>T (p.Pro533Ser)	PLPPR3 (P561S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272075	NM_001270366.2(PLPPR3):c.1516G>A (p.Gly506Ser)	PLPPR3 (G506S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215418	NM_001270366.2(PLPPR3):c.1492G>A (p.Glu498Lys)	PLPPR3 (E498K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408833	NM_001270366.2(PLPPR3):c.1472C>T (p.Pro491Leu)	PLPPR3 (P519L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225063	NM_001270366.2(PLPPR3):c.1442G>T (p.Arg481Leu)	PLPPR3 (R481L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285589	NM_001270366.2(PLPPR3):c.1426C>A (p.Pro476Thr)	PLPPR3 (P476T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377997	NM_001270366.2(PLPPR3):c.1403T>G (p.Leu468Arg)	PLPPR3 (L496R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512298	NM_001270366.2(PLPPR3):c.1394C>G (p.Pro465Arg)	PLPPR3 (P493R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264633	NM_001270366.2(PLPPR3):c.1391C>T (p.Ala464Val)	PLPPR3 (A464V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389404	NM_001270366.2(PLPPR3):c.1345G>A (p.Glu449Lys)	PLPPR3 (E449K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215417	NM_001270366.2(PLPPR3):c.1341G>C (p.Glu447Asp)	PLPPR3 (E447D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215416	NM_001270366.2(PLPPR3):c.1226G>A (p.Ser409Asn)	PLPPR3 (S437N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468249	NM_001270366.2(PLPPR3):c.1180A>G (p.Thr394Ala)	PLPPR3 (T394A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244394	NM_001270366.2(PLPPR3):c.1132C>T (p.Pro378Ser)	MIR3187, PLPPR3 (P406S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2523062	NM_001270366.2(PLPPR3):c.1085G>A (p.Arg362His)	MIR3187, PLPPR3 (R362H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2487999	NM_001270366.2(PLPPR3):c.1040G>A (p.Gly347Asp)	PLPPR3 (G347D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599895	NM_001270366.2(PLPPR3):c.1026G>C (p.Glu342Asp)	PLPPR3 (E342D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2239634	NM_001270366.2(PLPPR3):c.1022G>C (p.Arg341Pro)	PLPPR3 (R341P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215415	NM_001270366.2(PLPPR3):c.1021C>T (p.Arg341Cys)	PLPPR3 (R341C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529156	NM_001270366.2(PLPPR3):c.1012C>T (p.Pro338Ser)	PLPPR3 (P338S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303946	NM_001270366.2(PLPPR3):c.1009C>T (p.Arg337Trp)	PLPPR3 (R365W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387832	NM_001270366.2(PLPPR3):c.953A>G (p.Asn318Ser)	PLPPR3 (N318S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385580	NM_001270366.2(PLPPR3):c.950A>G (p.Gln317Arg)	PLPPR3 (Q345R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215414	NM_001270366.2(PLPPR3):c.934G>A (p.Asp312Asn)	PLPPR3 (D312N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601458	NM_001270366.2(PLPPR3):c.933C>G (p.His311Gln)	PLPPR3 (H311Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535449	NM_001270366.2(PLPPR3):c.895G>A (p.Ala299Thr)	PLPPR3 (A299T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216373	NM_001270366.2(PLPPR3):c.866C>T (p.Pro289Leu)	PLPPR3 (P289L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223893	NM_001270366.2(PLPPR3):c.865C>G (p.Pro289Ala)	PLPPR3 (P289A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348609	NM_001270366.2(PLPPR3):c.812C>T (p.Ala271Val)	PLPPR3 (A271V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215432	NM_001270366.2(PLPPR3):c.778C>T (p.Pro260Ser)	PLPPR3 (P288S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339693	NM_001270366.2(PLPPR3):c.725C>T (p.Ala242Val)	PLPPR3 (A242V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382196	NM_001270366.2(PLPPR3):c.718G>A (p.Ala240Thr)	PLPPR3 (A268T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621075	NM_001270366.2(PLPPR3):c.658-29C>T	PLPPR3 (P238L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407019	NM_001270366.2(PLPPR3):c.658-41C>T	PLPPR3 (T234I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208470	NM_001270366.2(PLPPR3):c.657+31G>A	PLPPR3 (A230T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250400	NM_001270366.2(PLPPR3):c.657+8C>T	PLPPR3 (P222L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281270	NM_001270366.2(PLPPR3):c.643G>A (p.Ala215Thr)	PLPPR3 (A215T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215431	NM_001270366.2(PLPPR3):c.568G>A (p.Gly190Ser)	PLPPR3 (G190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478506	NM_001270366.2(PLPPR3):c.542C>T (p.Pro181Leu)	PLPPR3 (P181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279999	NM_001270366.2(PLPPR3):c.524C>T (p.Thr175Met)	PLPPR3 (T175M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326828	NM_001270366.2(PLPPR3):c.478C>T (p.Pro160Ser)	PLPPR3 (P160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215430	NM_001270366.2(PLPPR3):c.464C>T (p.Thr155Met)	PLPPR3 (T155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215429	NM_001270366.2(PLPPR3):c.394C>T (p.Arg132Trp)	PLPPR3 (R132W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258852	NM_001270366.2(PLPPR3):c.383G>A (p.Arg128Gln)	PLPPR3 (R128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332466	NM_001270366.2(PLPPR3):c.355G>A (p.Gly119Ser)	PLPPR3 (G119S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533730	NM_001270366.2(PLPPR3):c.350A>G (p.Asn117Ser)	PLPPR3 (N117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323552	NM_001270366.2(PLPPR3):c.340G>A (p.Gly114Ser)	PLPPR3 (G114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553048	NM_001270366.2(PLPPR3):c.280A>T (p.Met94Leu)	PLPPR3 (M94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601053	NM_001270366.2(PLPPR3):c.256G>A (p.Ala86Thr)	PLPPR3 (A86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371944	NM_001270366.2(PLPPR3):c.127G>A (p.Asp43Asn)	PLPPR3 (D43N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338308	NM_001270366.2(PLPPR3):c.95C>T (p.Ser32Phe)	PLPPR3 (S32F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531046	NM_001270366.2(PLPPR3):c.70G>C (p.Val24Leu)	PLPPR3 (V24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230321	NM_001270366.2(PLPPR3):c.37G>C (p.Asp13His)	PLPPR3 (D13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402397	NM_001270366.2(PLPPR3):c.32C>G (p.Pro11Arg)	PLPPR3 (P11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215427	NM_001270366.2(PLPPR3):c.31C>G (p.Pro11Ala)	PLPPR3 (P11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648868	NM_001270366.2(PLPPR3):c.18G>A (p.Glu6=)	PLPPR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ABCA7, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 832136	NC_000019.9:g.(?_589926)_(1401495_?)dup	AZU1, CFD +35 more	Duplication	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ABCA7, ABHD17A +106 more	Copy number gain	not provided	GPathogenic

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