CYP17A1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 554

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 149001	GRCh38/hg38 10q24.32-24.33(chr10:102710547-103110626)x1	ARL3, AS3MT +20 more	Copy number loss	See cases	GUncertain significance
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 298615	NM_000102.4(CYP17A1):c.*165dup	CYP17A1	Duplication (3 prime UTR variant)	Congenital adrenal hyperplasia	GUncertain significance
Select item 298616	NM_000102.4(CYP17A1):c.*130C>T	CYP17A1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance
Select item 298617	NM_000102.4(CYP17A1):c.*67C>A	CYP17A1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance
Select item 298618	NM_000102.4(CYP17A1):c.*65C>A	CYP17A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 2114156	NM_000102.4(CYP17A1):c.1524C>G (p.Thr508=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 595664	NM_000102.4(CYP17A1):c.1524C>T (p.Thr508=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2848546	NM_000102.4(CYP17A1):c.1521C>T (p.Ser507=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526756	NM_000102.4(CYP17A1):c.1521C>A (p.Ser507Arg)	CYP17A1 (S507R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2841398	NM_000102.4(CYP17A1):c.1515G>C (p.Glu505Asp)	CYP17A1 (E505D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1138128	NM_000102.4(CYP17A1):c.1515G>A (p.Glu505=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486975	NM_000102.4(CYP17A1):c.1513G>A (p.Glu505Lys)	CYP17A1 (E505K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1108405	NM_000102.4(CYP17A1):c.1509G>A (p.Gln503=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852312	NM_000102.4(CYP17A1):c.1503A>G (p.Glu501=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070243	NM_000102.4(CYP17A1):c.1492G>T (p.Ala498Ser)	CYP17A1 (A498S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 877968	NM_000102.4(CYP17A1):c.1488C>T (p.Arg496=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2681111	NM_000102.4(CYP17A1):c.1487G>A (p.Arg496His)	CYP17A1 (R496H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1524567	NM_000102.4(CYP17A1):c.1486C>T (p.Arg496Cys)	CYP17A1 (R496C)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 2286525	NM_000102.4(CYP17A1):c.1483G>A (p.Val495Met)	CYP17A1 (V495M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1615516	NM_000102.4(CYP17A1):c.1479C>A (p.Ile493=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 631622	NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del)	CYP17A1	Deletion (inframe_deletion)	not provided +1 more	GPathogenic
Select item 755651	NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=)	CYP17A1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GLikely benign
Select item 1608983	NM_000102.4(CYP17A1):c.1453C>T (p.Leu485=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633786	NM_000102.4(CYP17A1):c.1449C>G (p.Val483=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1612938	NM_000102.4(CYP17A1):c.1443G>A (p.Lys481=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1094826	NM_000102.4(CYP17A1):c.1440C>T (p.Pro480=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852418	NM_000102.4(CYP17A1):c.1438_1439insT (p.Pro480fs)	CYP17A1 (P480fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1777	NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)	CYP17A1 (P480fs)	Duplication (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase +2 more	GPathogenic/Likely pathogenic
Select item 3079370	NM_000102.4(CYP17A1):c.1423T>A (p.Ser475Thr)	CYP17A1 (S475T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2988152	NM_000102.4(CYP17A1):c.1422C>T (p.Pro474=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681116	NM_000102.4(CYP17A1):c.1414C>T (p.Gln472Ter)	CYP17A1 (Q472*)	Single nucleotide variant (nonsense)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 991845	NM_000102.4(CYP17A1):c.1414C>A (p.Gln472Lys)	CYP17A1 (Q472K)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance
Select item 2328012	NM_000102.4(CYP17A1):c.1412G>A (p.Gly471Glu)	CYP17A1 (G471E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2780027	NM_000102.4(CYP17A1):c.1410T>C (p.Asp470=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987707	NM_000102.4(CYP17A1):c.1408G>C (p.Asp470His)	CYP17A1 (D470H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765136	NM_000102.4(CYP17A1):c.1407T>C (p.Asp469=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1670606	NM_000102.4(CYP17A1):c.1404A>C (p.Pro468=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787371	NM_000102.4(CYP17A1):c.1395G>A (p.Leu465=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735438	NM_000102.4(CYP17A1):c.1393C>T (p.Leu465=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1150754	NM_000102.4(CYP17A1):c.1389C>T (p.Phe463=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2255207	NM_000102.4(CYP17A1):c.1388T>G (p.Phe463Cys)	CYP17A1 (F463C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2681104	NM_000102.4(CYP17A1):c.1381C>T (p.Gln461Ter)	CYP17A1 (Q461*)	Single nucleotide variant (nonsense)	Deficiency of steroid 17-alpha-monooxygenase	GPathogenic
Select item 1637977	NM_000102.4(CYP17A1):c.1378C>T (p.Leu460=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681094	NM_000102.4(CYP17A1):c.1371del (p.Trp458fs)	CYP17A1 (W458fs)	Deletion (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 2382497	NM_000102.4(CYP17A1):c.1363A>C (p.Ile455Leu)	CYP17A1 (I455L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 298619	NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val)	CYP17A1 (I455V)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance
Select item 2012377	NM_000102.4(CYP17A1):c.1362C>T (p.Leu454=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954957	NM_000102.4(CYP17A1):c.1360C>T (p.Leu454Phe)	CYP17A1 (L454F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806	NM_000102.4(CYP17A1):c.1358T>C (p.Phe453Ser)	CYP17A1 (F453S)	Single nucleotide variant (missense variant)	17-alpha-hydroxylase/17,20-lyase deficiency, combined partial	GPathogenic
Select item 2157088	NM_000102.4(CYP17A1):c.1356C>A (p.Leu452=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029073	NM_000102.4(CYP17A1):c.1353G>A (p.Glu451=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820635	NM_000102.4(CYP17A1):c.1352A>C (p.Glu451Ala)	CYP17A1 (E451A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1556738	NM_000102.4(CYP17A1):c.1347C>T (p.Arg449=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681117	NM_000102.4(CYP17A1):c.1346del (p.Arg449fs)	CYP17A1 (R449fs)	Deletion (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 2024240	NM_000102.4(CYP17A1):c.1346G>T (p.Arg449Leu)	CYP17A1 (R449L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1989568	NM_000102.4(CYP17A1):c.1346G>A (p.Arg449His)	CYP17A1 (R449H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1512295	NM_000102.4(CYP17A1):c.1345C>T (p.Arg449Cys)	CYP17A1 (R449C)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GLikely pathogenic
Select item 1338524	NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His)	CYP17A1 (R440H)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +2 more	GPathogenic
Select item 2681119	NM_000102.4(CYP17A1):c.1318C>T (p.Arg440Cys)	CYP17A1 (R440C)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +2 more	GPathogenic
Select item 1784	NM_000102.4(CYP17A1):c.1313del (p.Gly438fs)	CYP17A1 (G438fs)	Deletion (frameshift variant)	17-alpha-hydroxylase/17,20-lyase deficiency, combined partial	GPathogenic
Select item 1457632	NM_000102.4(CYP17A1):c.1306G>A (p.Gly436Arg)	CYP17A1 (G436R)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic
Select item 1121104	NM_000102.4(CYP17A1):c.1305C>T (p.Phe435=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972671	NM_000102.4(CYP17A1):c.1304T>C (p.Phe435Ser)	CYP17A1 (F435S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2681097	NM_000102.4(CYP17A1):c.1301C>T (p.Pro434Leu)	CYP17A1 (P434L)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 2703414	NM_000102.4(CYP17A1):c.1293C>T (p.Ser431=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088123	NM_000102.4(CYP17A1):c.1284G>A (p.Pro428=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1799	NM_000102.4(CYP17A1):c.1283C>T (p.Pro428Leu)	CYP17A1 (P428L)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic
Select item 1960902	NM_000102.4(CYP17A1):c.1270del (p.Gln424fs)	CYP17A1 (Q424fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2862817	NM_000102.4(CYP17A1):c.1269C>T (p.Thr423=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 298620	NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2954943	NM_000102.4(CYP17A1):c.1266G>A (p.Gly422=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137364	NM_000102.4(CYP17A1):c.1265G>A (p.Gly422Glu)	CYP17A1 (G422E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681093	NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=)	CYP17A1	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia +2 more	GPathogenic/Likely pathogenic
Select item 2032523	NM_000102.4(CYP17A1):c.1260A>C (p.Pro420=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1804	NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)	CYP17A1 (R416H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2735478	NM_000102.4(CYP17A1):c.1246C>T (p.Arg416Cys)	CYP17A1 (R416C)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic
Select item 2681105	NM_000102.4(CYP17A1):c.1244-1G>C	CYP17A1	Single nucleotide variant (splice acceptor variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 2830812	NM_000102.4(CYP17A1):c.1244-4G>A	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603511	NM_000102.4(CYP17A1):c.1244-8G>A	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884668	NM_000102.4(CYP17A1):c.1244-12C>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2201502	NM_000102.4(CYP17A1):c.1244-18_1244-15dup	CYP17A1	Duplication (intron variant)	not provided	GLikely benign
Select item 2740369	NM_000102.4(CYP17A1):c.1244-16C>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978281	NM_000102.4(CYP17A1):c.1244-17C>A	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985881	NM_000102.4(CYP17A1):c.1244-19T>C	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912999	NM_000102.4(CYP17A1):c.1244-25_1244-20del	CYP17A1	Deletion (intron variant)	not provided	GLikely benign
Select item 1235283	NM_000102.4(CYP17A1):c.1244-129_1244-95del	CYP17A1	Deletion (intron variant)	not provided	GBenign
Select item 1197603	NM_000102.4(CYP17A1):c.1244-181G>A	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292657	NM_000102.4(CYP17A1):c.1244-223T>C	CYP17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298224	NM_000102.4(CYP17A1):c.1244-228T>C	CYP17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177607	NM_000102.4(CYP17A1):c.1243+113A>T	CYP17A1	Single nucleotide variant (intron variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GBenign/Likely benign
Select item 1177608	NM_000102.4(CYP17A1):c.1243+83C>A	CYP17A1	Single nucleotide variant (intron variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GBenign/Likely benign
Select item 2987515	NM_000102.4(CYP17A1):c.1243+20C>A	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2203622	NM_000102.4(CYP17A1):c.1243+20C>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983942	NM_000102.4(CYP17A1):c.1243+17C>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 6