ClinVar for Gene (Select 55341) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3121294	NM_018385.3(LSG1):c.941A>G (p.Glu314Gly)	LSG1 (E314G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121293	NM_018385.3(LSG1):c.920A>T (p.Tyr307Phe)	LSG1 (Y307F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121292	NM_018385.3(LSG1):c.892C>T (p.Pro298Ser)	LSG1 (P298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121291	NM_018385.3(LSG1):c.840C>G (p.His280Gln)	LSG1 (H280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121290	NM_018385.3(LSG1):c.82C>T (p.Arg28Cys)	LSG1 (R28C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121289	NM_018385.3(LSG1):c.782G>A (p.Arg261Lys)	LSG1 (R261K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121288	NM_018385.3(LSG1):c.754T>C (p.Ser252Pro)	LSG1 (S252P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121287	NM_018385.3(LSG1):c.730G>A (p.Gly244Arg)	LSG1 (G244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121286	NM_018385.3(LSG1):c.665G>A (p.Arg222Gln)	LSG1 (R222Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121285	NM_018385.3(LSG1):c.551G>A (p.Arg184Gln)	LSG1 (R184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121284	NM_018385.3(LSG1):c.513T>G (p.Ile171Met)	LSG1 (I171M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121282	NM_018385.3(LSG1):c.478A>G (p.Asn160Asp)	LSG1 (N160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121281	NM_018385.3(LSG1):c.421C>T (p.Arg141Cys)	LSG1 (R141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121280	NM_018385.3(LSG1):c.421C>A (p.Arg141Ser)	LSG1 (R141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121278	NM_018385.3(LSG1):c.1949G>A (p.Arg650His)	LSG1, TMEM44-AS2 (R650H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121277	NM_018385.3(LSG1):c.1946G>A (p.Ser649Asn)	LSG1, TMEM44-AS2 (S649N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121276	NM_018385.3(LSG1):c.193A>G (p.Thr65Ala)	LSG1 (T65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121275	NM_018385.3(LSG1):c.1898C>T (p.Ala633Val)	LSG1, TMEM44-AS2 (A633V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121274	NM_018385.3(LSG1):c.1643A>G (p.His548Arg)	LSG1, TMEM44-AS2 (H548R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3121273	NM_018385.3(LSG1):c.152A>C (p.Gln51Pro)	LSG1 (Q51P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121272	NM_018385.3(LSG1):c.1420G>A (p.Val474Ile)	LSG1 (V474I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2654364	NM_018385.3(LSG1):c.975C>T (p.Asp325=)	LSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618357	NM_018385.3(LSG1):c.862G>C (p.Ala288Pro)	LSG1 (A288P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613751	NM_018385.3(LSG1):c.1510C>T (p.Pro504Ser)	LSG1 (P504S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604211	NM_018385.3(LSG1):c.1351G>A (p.Ala451Thr)	LSG1 (A451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600858	NM_018385.3(LSG1):c.1141A>G (p.Lys381Glu)	LSG1 (K381E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597289	NM_018385.3(LSG1):c.1948C>G (p.Arg650Gly)	LSG1, TMEM44-AS2 (R650G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593092	NM_018385.3(LSG1):c.1450G>A (p.Glu484Lys)	LSG1 (E484K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591962	NM_018385.3(LSG1):c.403A>C (p.Asn135His)	LSG1 (N135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580342	GRCh37/hg19 3q29(chr3:193343827-194599635)x1	TMEM44, ATP13A3 +7 more	Copy number loss	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 2554915	NM_018385.3(LSG1):c.614A>T (p.Lys205Met)	LSG1 (K205M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549571	NM_018385.3(LSG1):c.1040G>A (p.Arg347Gln)	LSG1 (R347Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542158	NM_018385.3(LSG1):c.1559T>C (p.Met520Thr)	LSG1, TMEM44-AS2 (M520T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539518	NM_018385.3(LSG1):c.1880C>A (p.Ala627Glu)	LSG1, TMEM44-AS2 (A627E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527888	NM_018385.3(LSG1):c.41G>A (p.Arg14Gln)	LSG1 (R14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515531	NM_018385.3(LSG1):c.940G>A (p.Glu314Lys)	LSG1 (E314K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485495	NM_018385.3(LSG1):c.1532C>A (p.Thr511Lys)	LSG1 (T511K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485321	NM_018385.3(LSG1):c.1597C>T (p.Arg533Cys)	LSG1, TMEM44-AS2 (R533C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478787	NM_018385.3(LSG1):c.545A>C (p.Asp182Ala)	LSG1 (D182A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473237	NM_018385.3(LSG1):c.1961A>G (p.Lys654Arg)	LSG1, TMEM44-AS2 (K654R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469458	NM_018385.3(LSG1):c.1104G>C (p.Glu368Asp)	LSG1 (E368D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457808	NM_018385.3(LSG1):c.80A>G (p.His27Arg)	LSG1 (H27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402799	NM_018385.3(LSG1):c.1947T>G (p.Ser649Arg)	LSG1, TMEM44-AS2 (S649R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396462	NM_018385.3(LSG1):c.1880C>T (p.Ala627Val)	LSG1, TMEM44-AS2 (A627V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393646	NM_018385.3(LSG1):c.1774G>A (p.Val592Ile)	LSG1, TMEM44-AS2 (V592I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382283	NM_018385.3(LSG1):c.1965C>G (p.His655Gln)	LSG1, TMEM44-AS2 (H655Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378819	NM_018385.3(LSG1):c.1369G>A (p.Gly457Arg)	LSG1 (G457R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360294	NM_018385.3(LSG1):c.1530G>C (p.Leu510Phe)	LSG1 (L510F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357055	NM_018385.3(LSG1):c.1471A>G (p.Ile491Val)	LSG1 (I491V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356360	NM_018385.3(LSG1):c.737T>C (p.Ile246Thr)	LSG1 (I246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354844	NM_018385.3(LSG1):c.1384G>A (p.Asp462Asn)	LSG1 (D462N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349749	NM_018385.3(LSG1):c.1505G>A (p.Arg502Gln)	LSG1 (R502Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346364	NM_018385.3(LSG1):c.350C>T (p.Pro117Leu)	LSG1 (P117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342426	NM_018385.3(LSG1):c.1181A>G (p.Tyr394Cys)	LSG1 (Y394C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330444	NM_018385.3(LSG1):c.55C>T (p.His19Tyr)	LSG1 (H19Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327226	NM_018385.3(LSG1):c.268G>A (p.Gly90Arg)	LSG1 (G90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278457	NM_018385.3(LSG1):c.344G>A (p.Arg115Lys)	LSG1 (R115K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252261	NM_018385.3(LSG1):c.335G>C (p.Cys112Ser)	LSG1 (C112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251420	NM_018385.3(LSG1):c.341C>T (p.Pro114Leu)	LSG1 (P114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248539	NM_018385.3(LSG1):c.1734G>T (p.Gln578His)	LSG1, TMEM44-AS2 (Q578H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244887	NM_018385.3(LSG1):c.1721A>G (p.Glu574Gly)	LSG1, TMEM44-AS2 (E574G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243274	NM_018385.3(LSG1):c.1970A>T (p.Asp657Val)	LSG1, TMEM44-AS2 (D657V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233332	NM_018385.3(LSG1):c.392C>T (p.Ala131Val)	LSG1 (A131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209629	NM_018385.3(LSG1):c.899C>T (p.Thr300Met)	LSG1 (T300M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205700	NM_018385.3(LSG1):c.1330C>G (p.Pro444Ala)	LSG1 (P444A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809441	GRCh37/hg19 3q29(chr3:193396762-195009038)x3	ACAP2, ATP13A3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1527068	GRCh37/hg19 3q29(chr3:192607378-194745252)	ATP13A3, ATP13A4 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 973038	GRCh37/hg19 3q29(chr3:194161542-194998084)x3	ATP13A3, ACAP2 +4 more	Copy number gain	not provided	Gnot provided
Select item 789136	NM_018385.3(LSG1):c.1039C>T (p.Arg347Trp)	LSG1 (R347W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 786029	NM_018385.3(LSG1):c.1544-11TC[2]	LSG1, TMEM44-AS2	Microsatellite (intron variant)	not provided	GBenign
Select item 748709	NM_018385.3(LSG1):c.1851C>T (p.Pro617=)	LSG1, TMEM44-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726737	NM_018385.3(LSG1):c.606T>A (p.Asp202Glu)	LSG1 (D202E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 724153	NM_018385.3(LSG1):c.1479G>A (p.Thr493=)	LSG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686188	GRCh37/hg19 3q29(chr3:194363991-194497236)x3	FAM43A, LSG1	Copy number gain	not provided	GUncertain significance
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562863	GRCh37/hg19 3q29(chr3:194388927-194710972)x3	FAM43A, LSG1	Copy number gain	not provided	GUncertain significance
Select item 562857	GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	MB21D2, MUC4 +48 more	Copy number gain	not provided	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 394725	GRCh37/hg19 3q29(chr3:193952869-194669386)x3	ATP13A3, CPN2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	LRRC31, MCCC1 +198 more	Copy number gain	See cases	GPathogenic
Select item 393718	GRCh37/hg19 3q29(chr3:194310930-194669386)x3	FAM43A, LSG1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 252983	GRCh37/hg19 3q29(chr3:193944478-194483962)x1	ATP13A3, CPN2 +5 more	Copy number loss	See cases	GUncertain significance
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	ACAP2, APOD +313 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic

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