ClinVar for Gene (Select 4017) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291114	NM_002318.3(LOXL2):c.815T>C (p.Ile272Thr)	LOXL2 (I272T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291111	NM_002318.3(LOXL2):c.2110C>A (p.Pro704Thr)	LOXL2 (P704T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291110	NM_002318.3(LOXL2):c.2243T>C (p.Ile748Thr)	LOXL2 (I748T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291109	NM_002318.3(LOXL2):c.1834C>T (p.Arg612Trp)	LOXL2 (R612W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291108	NM_002318.3(LOXL2):c.2257A>G (p.Ser753Gly)	LOXL2 (S753G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291107	NM_002318.3(LOXL2):c.758G>A (p.Arg253Gln)	LOXL2 (R253Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291106	NM_002318.3(LOXL2):c.1571A>T (p.Asp524Val)	LOXL2 (D524V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291105	NM_002318.3(LOXL2):c.1543G>A (p.Glu515Lys)	LOXL2 (E515K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291104	NM_002318.3(LOXL2):c.2204G>A (p.Arg735His)	LOXL2 (R735H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291103	NM_002318.3(LOXL2):c.2267C>T (p.Thr756Met)	LOXL2 (T756M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291102	NM_002318.3(LOXL2):c.2218C>T (p.Arg740Cys)	LOXL2 (R740C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291101	NM_002318.3(LOXL2):c.1046C>T (p.Thr349Ile)	LOXL2 (T349I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119636	NM_002318.3(LOXL2):c.934C>A (p.Pro312Thr)	LOXL2 (P312T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119635	NM_002318.3(LOXL2):c.699G>A (p.Met233Ile)	LOXL2, LOXL2-AS1 (M233I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3119634	NM_002318.3(LOXL2):c.668C>T (p.Thr223Met)	LOXL2, LOXL2-AS1 (T223M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3119633	NM_002318.3(LOXL2):c.64C>G (p.Leu22Val)	LOXL2 (L22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119632	NM_002318.3(LOXL2):c.627G>C (p.Lys209Asn)	LOXL2, LOXL2-AS1 (K209N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3119631	NM_002318.3(LOXL2):c.478G>A (p.Asp160Asn)	LOXL2, LOXL2-AS1 (D160N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119630	NM_002318.3(LOXL2):c.2235C>G (p.Asn745Lys)	LOXL2 (N745K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119629	NM_002318.3(LOXL2):c.2229G>A (p.Met743Ile)	LOXL2 (M743I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119628	NM_002318.3(LOXL2):c.2186T>A (p.Ile729Asn)	LOXL2 (I729N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119627	NM_002318.3(LOXL2):c.1781G>A (p.Arg594His)	LOXL2 (R594H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119626	NM_002318.3(LOXL2):c.166A>T (p.Ile56Phe)	LOXL2 (I56F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119624	NM_002318.3(LOXL2):c.1139G>A (p.Arg380Gln)	LOXL2 (R380Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119623	NM_002318.3(LOXL2):c.1087G>A (p.Val363Ile)	LOXL2 (V363I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 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 2685305	GRCh37/hg19 8p21.3-21.2(chr8:23149628-23304899)x1	ENTPD4, LOXL2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	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 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2621716	NM_002318.3(LOXL2):c.1475C>G (p.Thr492Ser)	LOXL2 (T492S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620366	NM_002318.3(LOXL2):c.1757A>T (p.Gln586Leu)	LOXL2 (Q586L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606326	NM_002318.3(LOXL2):c.1248C>G (p.His416Gln)	LOXL2 (H416Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594311	NM_002318.3(LOXL2):c.2077A>G (p.Ile693Val)	LOXL2 (I693V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2568900	NM_002318.3(LOXL2):c.307G>A (p.Val103Met)	LOXL2 (V103M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561494	NM_002318.3(LOXL2):c.770G>A (p.Arg257His)	LOXL2 (R257H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557193	NM_002318.3(LOXL2):c.592C>T (p.Arg198Cys)	LOXL2, LOXL2-AS1 (R198C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2539862	NM_002318.3(LOXL2):c.1805A>G (p.Gln602Arg)	LOXL2 (Q602R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531989	NM_002318.3(LOXL2):c.1172A>G (p.Asn391Ser)	LOXL2 (N391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517949	NM_002318.3(LOXL2):c.1156G>A (p.Gly386Arg)	LOXL2 (G386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517529	NM_002318.3(LOXL2):c.62C>G (p.Pro21Arg)	LOXL2 (P21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513124	NM_002318.3(LOXL2):c.1673A>C (p.Gln558Pro)	LOXL2 (Q558P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512412	NM_002318.3(LOXL2):c.1315G>A (p.Gly439Ser)	LOXL2 (G439S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 2489587	NM_002318.3(LOXL2):c.1393G>C (p.Gly465Arg)	LOXL2 (G465R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467710	NM_002318.3(LOXL2):c.1155C>G (p.Ile385Met)	LOXL2 (I385M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464749	NM_002318.3(LOXL2):c.976G>C (p.Val326Leu)	LOXL2 (V326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457957	NM_002318.3(LOXL2):c.1835G>A (p.Arg612Gln)	LOXL2 (R612Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455025	NM_002318.3(LOXL2):c.1564C>T (p.Arg522Cys)	LOXL2 (R522C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411961	NM_002318.3(LOXL2):c.512C>T (p.Ser171Leu)	LOXL2, LOXL2-AS1 (S171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404976	NM_002318.3(LOXL2):c.155A>C (p.Asn52Thr)	LOXL2 (N52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404357	NM_002318.3(LOXL2):c.586C>T (p.Arg196Cys)	LOXL2, LOXL2-AS1 (R196C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2400065	NM_002318.3(LOXL2):c.1421T>C (p.Met474Thr)	LOXL2 (M474T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398885	NM_002318.3(LOXL2):c.2093T>C (p.Val698Ala)	LOXL2 (V698A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397445	NM_002318.3(LOXL2):c.715G>C (p.Glu239Gln)	LOXL2, LOXL2-AS1 (E239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384392	NM_002318.3(LOXL2):c.2159T>C (p.Val720Ala)	LOXL2 (V720A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378274	NM_002318.3(LOXL2):c.460G>A (p.Val154Ile)	LOXL2, LOXL2-AS1 (V154I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377065	NM_002318.3(LOXL2):c.2203C>T (p.Arg735Cys)	LOXL2 (R735C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376334	NM_002318.3(LOXL2):c.1249G>A (p.Glu417Lys)	LOXL2 (E417K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372476	NM_002318.3(LOXL2):c.887C>T (p.Pro296Leu)	LOXL2 (P296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358583	NM_002318.3(LOXL2):c.1855G>A (p.Ala619Thr)	LOXL2 (A619T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357955	NM_002318.3(LOXL2):c.1573G>A (p.Gly525Arg)	LOXL2 (G525R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353001	NM_002318.3(LOXL2):c.1753G>A (p.Ala585Thr)	LOXL2 (A585T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342907	NM_002318.3(LOXL2):c.1565G>A (p.Arg522His)	LOXL2 (R522H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337697	NM_002318.3(LOXL2):c.1453G>T (p.Ala485Ser)	LOXL2 (A485S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329821	NM_002318.3(LOXL2):c.1414G>C (p.Glu472Gln)	LOXL2 (E472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306338	NM_002318.3(LOXL2):c.598C>A (p.Pro200Thr)	LOXL2, LOXL2-AS1 (P200T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2287066	NM_002318.3(LOXL2):c.1003G>A (p.Gly335Arg)	LOXL2 (G335R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264316	NM_002318.3(LOXL2):c.1624G>A (p.Ala542Thr)	LOXL2 (A542T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261678	NM_002318.3(LOXL2):c.1838C>T (p.Pro613Leu)	LOXL2 (P613L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244228	NM_002318.3(LOXL2):c.1112G>A (p.Ser371Asn)	LOXL2 (S371N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238124	NM_002318.3(LOXL2):c.731C>G (p.Thr244Ser)	LOXL2, LOXL2-AS1 (T244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229733	NM_002318.3(LOXL2):c.683G>A (p.Arg228His)	LOXL2, LOXL2-AS1 (R228H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2224979	NM_002318.3(LOXL2):c.202A>C (p.Ser68Arg)	LOXL2 (S68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224891	NM_002318.3(LOXL2):c.2301A>C (p.Leu767Phe)	LOXL2 (L767F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219967	NM_002318.3(LOXL2):c.1517T>C (p.Met506Thr)	LOXL2 (M506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216271	NM_002318.3(LOXL2):c.820A>C (p.Ser274Arg)	LOXL2 (S274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213721	NM_002318.3(LOXL2):c.938C>T (p.Ser313Leu)	LOXL2 (S313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209973	NM_002318.3(LOXL2):c.1013G>A (p.Arg338His)	LOXL2 (R338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	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 1410288	NC_000008.10:g.(?_21900440)_(23564111_?)dup	BIN3, BMP1 +32 more	Duplication	Conotruncal heart malformations	GUncertain significance
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	PIWIL2, STC1 +55 more	Copy number gain	not provided	GPathogenic
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 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 792103	NM_002318.3(LOXL2):c.381C>T (p.His127=)	LOXL2, LOXL2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716530	NM_002318.3(LOXL2):c.411A>C (p.Ala137=)	LOXL2, LOXL2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715812	NM_002318.3(LOXL2):c.157G>T (p.Val53Leu)	LOXL2 (V53L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688470	GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	ADAM28, BIN3 +37 more	Copy number loss	not provided	GPathogenic
Select item 688356	GRCh37/hg19 8p21.3(chr8:23142067-23195975)x1	LOXL2, R3HCC1	Copy number loss	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

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