26333[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59449	GRCh38/hg38 5q23.1-23.2(chr5:118854384-122849602)x3	DMXL1, DMXL1-DT +84 more	Copy number gain	See cases	GUncertain significance
Select item 57490	GRCh38/hg38 5q23.1-23.2(chr5:120695675-124525372)x1	CEP120, CSNK1G3 +55 more	Copy number loss	See cases	GPathogenic
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
Select item 2549284	NM_152546.3(SRFBP1):c.101G>A (p.Ser34Asn)	SRFBP1 (S34N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348863	NM_152546.3(SRFBP1):c.142C>G (p.Leu48Val)	SRFBP1 (L48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295985	NM_152546.3(SRFBP1):c.154C>A (p.Gln52Lys)	SRFBP1 (Q52K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409506	NM_152546.3(SRFBP1):c.160C>T (p.Arg54Trp)	SRFBP1 (R54W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169950	NM_152546.3(SRFBP1):c.161G>A (p.Arg54Gln)	SRFBP1 (R54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224315	NM_152546.3(SRFBP1):c.164C>T (p.Ala55Val)	SRFBP1 (A55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169951	NM_152546.3(SRFBP1):c.246C>G (p.Ile82Met)	SRFBP1 (I82M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334432	NM_152546.3(SRFBP1):c.284C>T (p.Ala95Val)	SRFBP1 (A95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169952	NM_152546.3(SRFBP1):c.302C>T (p.Ala101Val)	SRFBP1 (A101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388832	NM_152546.3(SRFBP1):c.302C>A (p.Ala101Asp)	SRFBP1 (A101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322626	NM_152546.3(SRFBP1):c.330G>C (p.Lys110Asn)	SRFBP1 (K110N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551145	NM_152546.3(SRFBP1):c.353C>G (p.Ala118Gly)	SRFBP1 (A118G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384993	NM_152546.3(SRFBP1):c.365C>A (p.Ala122Asp)	SRFBP1 (A122D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322625	NM_152546.3(SRFBP1):c.410A>G (p.Lys137Arg)	SRFBP1 (K137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353592	NM_152546.3(SRFBP1):c.479G>A (p.Arg160His)	SRFBP1 (R160H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322624	NM_152546.3(SRFBP1):c.487A>G (p.Thr163Ala)	SRFBP1 (T163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268226	NM_152546.3(SRFBP1):c.499G>A (p.Glu167Lys)	SRFBP1 (E167K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169953	NM_152546.3(SRFBP1):c.506A>G (p.Lys169Arg)	SRFBP1 (K169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320553	NM_152546.3(SRFBP1):c.549T>A (p.Asn183Lys)	SRFBP1 (N183K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169954	NM_152546.3(SRFBP1):c.581G>C (p.Gly194Ala)	SRFBP1 (G194A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169955	NM_152546.3(SRFBP1):c.661A>G (p.Thr221Ala)	SRFBP1 (T221A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322623	NM_152546.3(SRFBP1):c.731C>G (p.Ser244Cys)	SRFBP1 (S244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537559	NM_152546.3(SRFBP1):c.739A>G (p.Ser247Gly)	SRFBP1 (S247G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508528	NM_152546.3(SRFBP1):c.844G>A (p.Gly282Ser)	SRFBP1 (G282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322627	NM_152546.3(SRFBP1):c.851A>C (p.Asp284Ala)	SRFBP1 (D284A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304536	NM_152546.3(SRFBP1):c.925C>A (p.Pro309Thr)	SRFBP1 (P309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169956	NM_152546.3(SRFBP1):c.947A>G (p.Lys316Arg)	SRFBP1 (K316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169949	NM_152546.3(SRFBP1):c.1037A>C (p.His346Pro)	SRFBP1 (H346P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322628	NM_152546.3(SRFBP1):c.1076A>C (p.Lys359Thr)	SRFBP1 (K359T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457933	NM_152546.3(SRFBP1):c.1198C>G (p.Leu400Val)	SRFBP1 (L400V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512250	NM_152546.3(SRFBP1):c.1275T>G (p.Ile425Met)	SRFBP1 (I425M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339681	NM_152546.3(SRFBP1):c.1276A>G (p.Thr426Ala)	SRFBP1 (T426A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1270158	NM_002317.7(LOX):c.*154A>G	LOX, SRFBP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2000823	NM_002317.7(LOX):c.1254G>C (p.Ter418Tyr)	LOX, SRFBP1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2970418	NM_002317.7(LOX):c.1248-20_1248-11del	LOX, SRFBP1	Deletion (intron variant)	not provided	GBenign
Select item 2997980	NM_002317.7(LOX):c.1248-15G>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277270	NM_002317.7(LOX):c.1248-153G>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219199	NM_002317.7(LOX):c.1248-327C>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2630118	NM_002317.7(LOX):c.1247+5G>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	LOX-related disorder +1 more	GUncertain significance
Select item 2750181	NM_002317.7(LOX):c.1247+4A>T	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1759715	NM_002317.7(LOX):c.1247+1G>C	LOX, SRFBP1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 1512706	NM_002317.7(LOX):c.1247+1G>A	LOX, SRFBP1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1313512	NM_002317.7(LOX):c.1247C>T (p.Pro416Leu)	LOX, SRFBP1 (P119L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936019	NM_002317.7(LOX):c.1242T>C (p.Ile414=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1756950	NM_002317.7(LOX):c.1236C>T (p.Cys412=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1756158	NM_002317.7(LOX):c.1233C>T (p.Gly411=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2873468	NM_002317.7(LOX):c.1232G>C (p.Gly411Ala)	LOX, SRFBP1 (G181A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1755946	NM_002317.7(LOX):c.1232G>T (p.Gly411Val)	LOX, SRFBP1 (G114V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1215724	NM_002317.7(LOX):c.1232G>A (p.Gly411Asp)	LOX, SRFBP1 (G114D +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +1 more	GUncertain significance
Select item 1921669	NM_002317.7(LOX):c.1227C>T (p.Ala409=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708582	NM_002317.7(LOX):c.1225G>A (p.Ala409Thr)	LOX, SRFBP1 (A112T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2673022	NM_002317.7(LOX):c.1224T>G (p.Tyr408Ter)	LOX, SRFBP1 (Y111* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3336903	NM_002317.7(LOX):c.1222dup (p.Tyr408fs)	LOX, SRFBP1 (Y111fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1992745	NM_002317.7(LOX):c.1221_1222dup (p.Tyr408fs)	LOX, SRFBP1 (Y178fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 547513	NM_002317.7(LOX):c.1222T>C (p.Tyr408His)	LOX, SRFBP1 (Y408H +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 1753246	NM_002317.7(LOX):c.1221G>A (p.Ala407=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1940959	NM_002317.7(LOX):c.1220C>G (p.Ala407Gly)	LOX, SRFBP1 (A110G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397750	NM_002317.7(LOX):c.1214_1220del (p.His405fs)	LOX, SRFBP1 (H108fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1386556	NM_002317.7(LOX):c.1220C>T (p.Ala407Val)	LOX, SRFBP1 (A177V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1752483	NM_002317.7(LOX):c.1219G>A (p.Ala407Thr)	LOX, SRFBP1 (A177T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1751557	NM_002317.7(LOX):c.1215T>C (p.His405=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1376088	NM_002317.7(LOX):c.1207A>G (p.Thr403Ala)	LOX, SRFBP1 (T106A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2575661	NM_002317.7(LOX):c.1202G>A (p.Arg401His)	LOX, SRFBP1 (R104H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434346	NM_002317.7(LOX):c.1190G>A (p.Arg397His)	LOX, SRFBP1 (R167H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +2 more	GUncertain significance
Select item 1215447	NM_002317.7(LOX):c.1189C>T (p.Arg397Cys)	LOX, SRFBP1 (R100C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1801043	NM_002317.7(LOX):c.1186G>A (p.Val396Met)	LOX, SRFBP1 (V166M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1742647	NM_002317.7(LOX):c.1182T>C (p.Asn394=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1740768	NM_002317.7(LOX):c.1176C>T (p.Thr392=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1740527	NM_002317.7(LOX):c.1175C>T (p.Thr392Ile)	LOX, SRFBP1 (T392I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2839495	NM_002317.7(LOX):c.1169A>C (p.Asp390Ala)	LOX, SRFBP1 (D390A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007540	NM_002317.7(LOX):c.1160C>T (p.Pro387Leu)	LOX, SRFBP1 (P157L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481879	NM_002317.7(LOX):c.1159C>G (p.Pro387Ala)	LOX, SRFBP1 (P157A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001854	NM_002317.7(LOX):c.1156G>A (p.Val386Ile)	LOX, SRFBP1 (V386I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1735204	NM_002317.7(LOX):c.1155G>A (p.Leu385=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2825947	NM_002317.7(LOX):c.1151A>T (p.Tyr384Phe)	LOX, SRFBP1 (Y384F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805905	NM_002317.7(LOX):c.1150T>C (p.Tyr384His)	LOX, SRFBP1 (Y384H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100766	NM_002317.7(LOX):c.1148del (p.Ser383fs)	LOX, SRFBP1 (S153fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1731068	NM_002317.7(LOX):c.1140A>G (p.Val380=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2691194	NM_002317.7(LOX):c.1137T>C (p.Ser379=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2446432	NM_002317.7(LOX):c.1132G>C (p.Val378Leu)	LOX, SRFBP1 (V148L +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10	GLikely pathogenic
Select item 2023311	NM_002317.7(LOX):c.1132-5C>T	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1331281	NM_002317.7(LOX):c.1132-10T>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1929904	NM_002317.7(LOX):c.1132-15C>G	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989148	NM_002317.7(LOX):c.1132-16T>C	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2801037	NM_002317.7(LOX):c.1132-18A>G	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549814	NM_002317.7(LOX):c.1132-19A>T	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249178	NM_002317.7(LOX):c.1131+110dup	LOX, SRFBP1	Duplication (intron variant)	not provided	GBenign
Select item 2038932	NM_002317.7(LOX):c.1131+7A>G	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 424133	NM_002317.7(LOX):c.1131+1_1131+6del	LOX, SRFBP1	Deletion (splice donor variant)	not provided	GPathogenic/Likely pathogenic

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