ClinVar for MedGen (Select 82782) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241265	NM_000102.4(CYP17A1):c.321del (p.Asn107fs)	CYP17A1 (N107fs)	Deletion (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 3241264	NM_000102.4(CYP17A1):c.418C>T (p.Gln140Ter)	CYP17A1 (Q140*)	Single nucleotide variant (nonsense)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 3241263	NM_000102.4(CYP17A1):c.938G>A (p.Trp313Ter)	CYP17A1-AS1, CYP17A1 (W313*)	Single nucleotide variant (nonsense)	Deficiency of steroid 17-alpha-monooxygenase	GPathogenic
Select item 3235268	NM_000102.4(CYP17A1):c.1169C>G (p.Thr390Arg)	CYP17A1	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GPathogenic
Select item 2839284	NM_000102.4(CYP17A1):c.336dup (p.Ala113fs)	CYP17A1 (A113fs)	Duplication (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 2783459	NM_000102.4(CYP17A1):c.298-2A>G	CYP17A1	Single nucleotide variant (splice acceptor variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GLikely 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 2681121	NM_000102.4(CYP17A1):c.350_351del (p.Ser117fs)	CYP17A1 (S117fs)	Microsatellite (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase	GPathogenic
Select item 2681120	NM_000102.4(CYP17A1):c.987C>G (p.Tyr329Ter)	CYP17A1 (Y329*)	Single nucleotide variant (nonsense)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic/Likely pathogenic
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 2681118	NM_000102.4(CYP17A1):c.671del (p.Phe224fs)	CYP17A1, CYP17A1-AS1 (F224fs)	Deletion (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
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 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 2681114	NM_000102.4(CYP17A1):c.574dup (p.Asp192fs)	CYP17A1 (D192fs)	Duplication (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 2681113	NM_000102.4(CYP17A1):c.806_810del (p.Ala269fs)	CYP17A1, CYP17A1-AS1 (A269fs)	Deletion (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 2681112	NM_000102.4(CYP17A1):c.973AAG[2] (p.Lys327del)	CYP17A1 (K327del)	Microsatellite (inframe deletion)	Congenital adrenal hyperplasia +1 more	GPathogenic/Likely pathogenic
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 2681110	NM_000102.4(CYP17A1):c.667-16_680del	CYP17A1, CYP17A1-AS1	Deletion (splice acceptor variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic
Select item 2681108	NM_000102.4(CYP17A1):c.245C>A (p.Ala82Asp)	CYP17A1 (A82D)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 2681107	NM_000102.4(CYP17A1):c.632_633del (p.Lys211fs)	CYP17A1 (K211fs)	Deletion (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 2681106	NM_000102.4(CYP17A1):c.1157_1161del (p.Val386fs)	CYP17A1 (V386fs)	Deletion (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
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 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 2681103	NM_000102.4(CYP17A1):c.887T>C (p.Ile296Thr)	CYP17A1, CYP17A1-AS1 (I296T)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GLikely pathogenic
Select item 2681102	NM_000102.4(CYP17A1):c.133_138delinsT (p.Arg45fs)	CYP17A1 (R45fs)	Indel (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 2681101	NM_000102.4(CYP17A1):c.988GAG[1] (p.Glu331del)	CYP17A1 (E331del)	Microsatellite (inframe deletion)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 2681100	NM_000102.4(CYP17A1):c.437-1G>A	CYP17A1	Single nucleotide variant (splice acceptor variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 2681099	NM_000102.4(CYP17A1):c.946dup (p.Ala316fs)	CYP17A1-AS1, CYP17A1 (A316fs)	Duplication (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 2681098	NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr)	CYP17A1 (I332T)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
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 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 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 2681092	NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val)	CYP17A1 (A398V)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GLikely pathogenic
Select item 2585193	NM_000102.4(CYP17A1):c.1216T>G (p.Trp406Gly)	CYP17A1 (W406G)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance
Select item 2573844	NM_000102.4(CYP17A1):c.327dup (p.Lys110Ter)	CYP17A1 (K110*)	Duplication (nonsense)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic
Select item 2573363	NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)	CYP17A1 (I371T)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +1 more	GConflicting classifications of pathogenicity
Select item 2440672	NM_000102.4(CYP17A1):c.350C>G (p.Ser117Cys)	CYP17A1 (S117C)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance
Select item 2439628	NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)	CYP17A1, CYP17A1-AS1 (R239Q)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 2153178	NM_000102.4(CYP17A1):c.177del (p.Lys59fs)	CYP17A1 (K59fs)	Deletion (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 2152094	NM_000102.4(CYP17A1):c.177dup (p.Tyr60fs)	CYP17A1 (Y60fs)	Duplication (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic
Select item 2136931	NM_000102.4(CYP17A1):c.362G>A (p.Trp121Ter)	CYP17A1 (W121*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 1948728	NM_000102.4(CYP17A1):c.666+2T>C	CYP17A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1709011	NM_000102.4(CYP17A1):c.438_439del (p.Ile146fs)	CYP17A1 (I146fs)	Deletion (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase	GPathogenic
Select item 1677197	NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile)	CYP17A1 (M1I)	Single nucleotide variant (missense variant +1 more)	Deficiency of steroid 17-alpha-monooxygenase +2 more	GLikely pathogenic
Select item 1677065	NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)	CYP17A1	Duplication (inframe_insertion)	Congenital adrenal hyperplasia +1 more	GLikely pathogenic
Select item 1622318	NM_000102.4(CYP17A1):c.764G>A (p.Arg255Gln)	CYP17A1, CYP17A1-AS1 (R255Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1540092	NM_000102.4(CYP17A1):c.318C>T (p.Ser106=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 1478370	NM_000102.4(CYP17A1):c.667-13_667-10del	CYP17A1, CYP17A1-AS1	Deletion (intron variant)	not provided +2 more	GLikely pathogenic
Select item 1460105	NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn)	CYP17A1 (H373N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1456799	NM_000102.4(CYP17A1):c.521C>A (p.Ala174Glu)	CYP17A1 (A174E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely 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 1322183	NM_000102.4(CYP17A1):c.580G>T (p.Glu194Ter)	CYP17A1 (E194*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1322182	NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg)	CYP17A1 (P409R)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic
Select item 1177609	NM_000102.4(CYP17A1):c.666+35T>C	CYP17A1	Single nucleotide variant (intron variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GBenign
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 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 1137789	NM_000102.4(CYP17A1):c.741T>C (p.Leu247=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GLikely benign
Select item 1133116	NM_000102.4(CYP17A1):c.831T>C (p.Asn277=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GLikely benign
Select item 1119417	NM_000102.4(CYP17A1):c.1233G>A (p.Gln411=)	CYP17A1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GLikely benign
Select item 1113477	NM_000102.4(CYP17A1):c.654C>T (p.Val218=)	CYP17A1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GLikely benign
Select item 1086487	NM_000102.4(CYP17A1):c.315G>A (p.Ala105=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1074306	NM_000102.4(CYP17A1):c.1072C>T (p.Arg358Ter)	CYP17A1 (R358*)	Single nucleotide variant (nonsense)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic
Select item 1066592	NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu)	CYP17A1 (P409L)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GLikely pathogenic
Select item 1065952	NM_000102.4(CYP17A1):c.753+1G>A	CYP17A1, CYP17A1-AS1	Single nucleotide variant (splice donor variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 1065951	NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp)	CYP17A1 (H373D)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 1065950	NM_000102.4(CYP17A1):c.1117C>T (p.His373Tyr)	CYP17A1 (H373Y)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +1 more	GPathogenic
Select item 997698	NM_000102.4(CYP17A1):c.1050CCT[1] (p.Leu353del)	CYP17A1 (L353del)	Microsatellite (inframe_deletion)	Deficiency of steroid 17-alpha-monooxygenase	GPathogenic
Select item 991853	NM_000102.4(CYP17A1):c.186C>T (p.Pro62=)	CYP17A1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GLikely benign
Select item 991852	NM_000102.4(CYP17A1):c.225T>G (p.Ile75Met)	CYP17A1 (I75M)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance
Select item 991851	NM_000102.4(CYP17A1):c.235C>A (p.His79Asn)	CYP17A1 (H79N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 991850	NM_000102.4(CYP17A1):c.235C>G (p.His79Asp)	CYP17A1 (H79D)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance
Select item 991849	NM_000102.4(CYP17A1):c.384G>A (p.Ala128=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991848	NM_000102.4(CYP17A1):c.483C>T (p.Asn161=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991847	NM_000102.4(CYP17A1):c.522G>A (p.Ala174=)	CYP17A1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance
Select item 991846	NM_000102.4(CYP17A1):c.1227G>A (p.Pro409=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 969804	NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs)	CYP17A1 (Y329fs)	Indel (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic
Select item 960455	NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter)	CYP17A1 (W220*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 941267	NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)	CYP17A1 (R362H)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 879805	NM_000102.4(CYP17A1):c.-33G>A	CYP17A1, LOC110408762	Single nucleotide variant (5 prime UTR variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance
Select item 879804	NM_000102.4(CYP17A1):c.100C>T (p.Leu34=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879433	NM_000102.4(CYP17A1):c.200G>A (p.Arg67His)	CYP17A1 (R67H)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance
Select item 879432	NM_000102.4(CYP17A1):c.412G>A (p.Gly138Ser)	CYP17A1 (G138S)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance
Select item 879431	NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser)	CYP17A1, CYP17A1-AS1 (F224S)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance
Select item 879430	NM_000102.4(CYP17A1):c.753+13G>A	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877971	NM_000102.4(CYP17A1):c.988G>A (p.Glu330Lys)	CYP17A1 (E330K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 877970	NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His)	CYP17A1 (R340H)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase	GConflicting classifications of pathogenicity
Select item 877969	NM_000102.4(CYP17A1):c.1134C>T (p.Asp378=)	CYP17A1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GConflicting classifications of pathogenicity
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 838889	NM_000102.4(CYP17A1):c.675dup (p.Asn226fs)	CYP17A1, CYP17A1-AS1 (N226fs)	Duplication (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 796460	NM_000102.4(CYP17A1):c.102G>T (p.Leu34=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765172	NM_000102.4(CYP17A1):c.987C>T (p.Tyr329=)	CYP17A1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GConflicting classifications of pathogenicity
Select item 761000	NM_000102.4(CYP17A1):c.436+105A>C	CYP17A1	Single nucleotide variant (intron variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GBenign
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 755338	NM_000102.4(CYP17A1):c.702C>T (p.Ser234=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751221	NM_000102.4(CYP17A1):c.276C>T (p.Asp92=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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