PLAA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
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 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 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 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 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 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 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 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 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 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 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 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 151162	GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1	C9orf72, CAAP1 +136 more	Copy number loss	See cases	GPathogenic
Select item 1952054	NM_001031689.3(PLAA):c.2387A>T (p.Ter796Leu)	PLAA	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1938524	NM_001031689.3(PLAA):c.2385G>T (p.Leu795=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729730	NM_001031689.3(PLAA):c.2376A>T (p.Leu792=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939071	NM_001031689.3(PLAA):c.2374C>A (p.Leu792Ile)	PLAA (L769I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435810	NM_001031689.3(PLAA):c.2371A>C (p.Ile791Leu)	PLAA (I768L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1621001	NM_001031689.3(PLAA):c.2355T>C (p.Ser785=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 694395	NM_001031689.3(PLAA):c.2350del (p.Lys783_Val784insTer)	PLAA	Deletion (nonsense)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GLikely pathogenic
Select item 1952741	NM_001031689.3(PLAA):c.2326T>A (p.Ser776Thr)	PLAA (S776T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030979	NM_001031689.3(PLAA):c.2323T>C (p.Tyr775His)	PLAA (Y752H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2014332	NM_001031689.3(PLAA):c.2321A>C (p.Lys774Thr)	PLAA (K751T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418486	NM_001031689.3(PLAA):c.2315_2318del (p.Ile772fs)	PLAA (I749fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1361396	NM_001031689.3(PLAA):c.2311C>T (p.Gln771Ter)	PLAA (Q771* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2969624	NM_001031689.3(PLAA):c.2307T>C (p.Asp769=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588427	NM_001031689.3(PLAA):c.2295T>G (p.Ser765=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370231	NM_001031689.3(PLAA):c.2294C>A (p.Ser765Tyr)	PLAA (S765Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1307221	NM_001031689.3(PLAA):c.2281C>G (p.Gln761Glu)	PLAA (Q738E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094863	NM_001031689.3(PLAA):c.2276C>T (p.Ala759Val)	PLAA (A759V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901119	NM_001031689.3(PLAA):c.2273A>G (p.Asn758Ser)	PLAA (N735S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973095	NM_001031689.3(PLAA):c.2264A>G (p.Asp755Gly)	PLAA (D755G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1411370	NM_001031689.3(PLAA):c.2261G>A (p.Ser754Asn)	PLAA (S754N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427940	NM_001031689.3(PLAA):c.2254C>T (p.Leu752Phe)	PLAA (L752F +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GPathogenic
Select item 1575838	NM_001031689.3(PLAA):c.2250A>G (p.Gly750=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002572	NM_001031689.3(PLAA):c.2238T>C (p.Leu746=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1717729	NM_001031689.3(PLAA):c.2225C>G (p.Thr742Ser)	PLAA (T719S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567433	NM_001031689.3(PLAA):c.2214C>T (p.Asp738=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1400149	NM_001031689.3(PLAA):c.2194A>G (p.Ile732Val)	PLAA (I732V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603009	NM_001031689.3(PLAA):c.2193A>C (p.Thr731=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977484	NM_001031689.3(PLAA):c.2172A>G (p.Gln724=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358878	NM_001031689.3(PLAA):c.2166A>T (p.Lys722Asn)	PLAA (K699N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789939	NM_001031689.3(PLAA):c.2163dup (p.Lys722fs)	PLAA (K722fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2198219	NM_001031689.3(PLAA):c.2159A>G (p.Glu720Gly)	PLAA (E720G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500440	NM_001031689.3(PLAA):c.2145_2147del (p.Lys715_Asp716delinsAsn)	PLAA	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1554208	NM_001031689.3(PLAA):c.2121G>C (p.Leu707=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069428	NM_001031689.3(PLAA):c.2118C>T (p.Ala706=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389717	NM_001031689.3(PLAA):c.2098A>G (p.Ile700Val)	PLAA (I677V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2297601	NM_001031689.3(PLAA):c.2092A>G (p.Ile698Val)	PLAA (I675V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2072070	NM_001031689.3(PLAA):c.2088G>T (p.Lys696Asn)	PLAA (K673N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436104	NM_001031689.3(PLAA):c.2088G>C (p.Lys696Asn)	PLAA (K673N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409334	NM_001031689.3(PLAA):c.2080A>C (p.Ser694Arg)	PLAA (S671R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074682	NM_001031689.3(PLAA):c.2079G>A (p.Gly693=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551735	NM_001031689.3(PLAA):c.2076A>G (p.Ser692=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019741	NM_001031689.3(PLAA):c.2060C>T (p.Ala687Val)	PLAA (A664V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713858	NM_001031689.3(PLAA):c.2054C>T (p.Ser685Phe)	PLAA (S662F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090780	NM_001031689.3(PLAA):c.2046A>T (p.Ser682=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871230	NM_001031689.3(PLAA):c.2037G>A (p.Gln679=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421049	NM_001031689.3(PLAA):c.2036A>G (p.Gln679Arg)	PLAA (Q656R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123643	NM_001031689.3(PLAA):c.2028G>T (p.Met676Ile)	PLAA (M653I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693598	NM_001031689.3(PLAA):c.2025C>T (p.Leu675=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012731	NM_001031689.3(PLAA):c.2021A>C (p.Lys674Thr)	PLAA (K674T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1596086	NM_001031689.3(PLAA):c.2019A>G (p.Gln673=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2142373	NM_001031689.3(PLAA):c.2010G>A (p.Gln670=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759486	NM_001031689.3(PLAA):c.2007C>G (p.Gly669=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1346892	NM_001031689.3(PLAA):c.2002G>A (p.Val668Ile)	PLAA (V668I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120060	NM_001031689.3(PLAA):c.1994A>G (p.Asn665Ser)	PLAA (N642S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506926	NM_001031689.3(PLAA):c.1994del (p.Asn665fs)	PLAA (N665fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1973223	NM_001031689.3(PLAA):c.1989T>A (p.Phe663Leu)	PLAA (F640L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009457	NM_001031689.3(PLAA):c.1966C>G (p.Gln656Glu)	PLAA (Q633E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013465	NM_001031689.3(PLAA):c.1957_1958delinsAT (p.Pro653Ile)	PLAA (P630I +1 more)	Indel (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies +1 more	GUncertain significance
Select item 1617178	NM_001031689.3(PLAA):c.1938T>C (p.Leu646=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134132	NM_001031689.3(PLAA):c.1934A>G (p.Asn645Ser)	PLAA (N622S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932008	NM_001031689.3(PLAA):c.1931T>C (p.Ile644Thr)	PLAA (I621T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478765	NM_001031689.3(PLAA):c.1925A>G (p.His642Arg)	PLAA (H619R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714415	NM_001031689.3(PLAA):c.1922G>A (p.Ser641Asn)	PLAA (S618N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503293	NM_001031689.3(PLAA):c.1914G>C (p.Gln638His)	PLAA (Q615H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2090538	NM_001031689.3(PLAA):c.1879A>G (p.Asn627Asp)	PLAA (N604D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3214224	NM_001031689.3(PLAA):c.1873A>G (p.Ser625Gly)	PLAA (S625G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1460659	NM_001031689.3(PLAA):c.1853G>A (p.Arg618Gln)	PLAA (R618Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964586	NM_001031689.3(PLAA):c.1842T>G (p.Leu614=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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