C0268285[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 631622	NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del)	CYP17A1	Deletion (inframe_deletion)	not provided +1 more	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 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 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 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 2681117	NM_000102.4(CYP17A1):c.1346del (p.Arg449fs)	CYP17A1 (R449fs)	Deletion (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase	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 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 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 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 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 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 1786	NM_000102.4(CYP17A1):c.1243+5G>A	CYP17A1	Single nucleotide variant (intron variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
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 1066592	NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu)	CYP17A1 (P409L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1797	NM_000102.4(CYP17A1):c.1216T>C (p.Trp406Arg)	CYP17A1 (W406R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 417889	NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter)	CYP17A1 (K388*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 654004	NM_000102.4(CYP17A1):c.1118A>T (p.His373Leu)	CYP17A1 (H373L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 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 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 1796	NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys)	CYP17A1 (R362C)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +3 more	GPathogenic
Select item 1788	NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln)	CYP17A1 (R358Q)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +2 more	GPathogenic/Likely pathogenic
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 1787	NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His)	CYP17A1 (R347H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1794	NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)	CYP17A1 (R347C)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +3 more	GPathogenic
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 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 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 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 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 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 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 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 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 658387	NM_000102.4(CYP17A1):c.869del (p.Asn290fs)	CYP17A1, CYP17A1-AS1 (N290fs)	Deletion (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic/Likely 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 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 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 1782	NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)	CYP17A1, CYP17A1-AS1 (R239*)	Single nucleotide variant (nonsense)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic
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 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 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 1478370	NM_000102.4(CYP17A1):c.667-13_667-10del	CYP17A1, CYP17A1-AS1	Deletion (intron variant)	not provided +2 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 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 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 1800	NM_000102.4(CYP17A1):c.601T>A (p.Tyr201Asn)	CYP17A1 (Y201N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 2681114	NM_000102.4(CYP17A1):c.574dup (p.Asp192fs)	CYP17A1 (D192fs)	Duplication (frameshift variant)	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 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 1803	NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln)	CYP17A1 (R125Q)	Single nucleotide variant (missense variant)	not provided +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 2681121	NM_000102.4(CYP17A1):c.350_351del (p.Ser117fs)	CYP17A1 (S117fs)	Microsatellite (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase	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 1677065	NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)	CYP17A1	Duplication (inframe_insertion)	Congenital adrenal hyperplasia +1 more	GLikely pathogenic
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 3241265	NM_000102.4(CYP17A1):c.321del (p.Asn107fs)	CYP17A1 (N107fs)	Deletion (frameshift variant)	Deficiency of steroid 17-alpha-monooxygenase	GLikely pathogenic
Select item 1780	NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro)	CYP17A1 (S106P)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic
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 431980	NM_000102.4(CYP17A1):c.297+2T>C	CYP17A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1802	NM_000102.4(CYP17A1):c.287G>A (p.Arg96Gln)	CYP17A1 (R96Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1785	NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)	CYP17A1 (R96W)	Single nucleotide variant (missense variant)	not provided +2 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 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 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 1778	NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)	CYP17A1 (F54del)	Microsatellite (inframe_deletion)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic/Likely 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

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Items: 78