Related gene-specific medical variations for Gene (Select 1586) - 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 3079371	NM_000102.4(CYP17A1):c.968A>G (p.Gln323Arg)	CYP17A1, CYP17A1-AS1 (Q323R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3019287	NM_000102.4(CYP17A1):c.969+9C>T	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970583	NM_000102.4(CYP17A1):c.753+12_753+13del	CYP17A1, CYP17A1-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2965137	NM_000102.4(CYP17A1):c.754-15C>A	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961493	NM_000102.4(CYP17A1):c.667-19A>G	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915695	NM_000102.4(CYP17A1):c.969+15C>T	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907836	NM_000102.4(CYP17A1):c.858G>A (p.Leu286=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901559	NM_000102.4(CYP17A1):c.969+11C>G	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897128	NM_000102.4(CYP17A1):c.969+12C>T	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893942	NM_000102.4(CYP17A1):c.732T>C (p.Asn244=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890432	NM_000102.4(CYP17A1):c.667-15C>A	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889769	NM_000102.4(CYP17A1):c.969+13C>A	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888971	NM_000102.4(CYP17A1):c.970-13C>T	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860050	NM_000102.4(CYP17A1):c.861T>G (p.Leu287=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852466	NM_000102.4(CYP17A1):c.969+13dup	CYP17A1, CYP17A1-AS1	Duplication (intron variant)	not provided	GBenign
Select item 2847036	NM_000102.4(CYP17A1):c.667-20C>T	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843835	NM_000102.4(CYP17A1):c.782dup (p.Asn261fs)	CYP17A1, CYP17A1-AS1 (N261fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2843782	NM_000102.4(CYP17A1):c.891G>A (p.Gly297=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833403	NM_000102.4(CYP17A1):c.861T>A (p.Leu287=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797443	NM_000102.4(CYP17A1):c.969+12C>G	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795335	NM_000102.4(CYP17A1):c.754-9C>T	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770064	NM_000102.4(CYP17A1):c.973A>T (p.Lys325Ter)	CYP17A1, CYP17A1-AS1 (K325*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2764363	NM_000102.4(CYP17A1):c.917C>A (p.Thr306Asn)	CYP17A1, CYP17A1-AS1 (T306N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2759907	NM_000102.4(CYP17A1):c.970-4T>A	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746805	NM_000102.4(CYP17A1):c.969+18T>C	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731578	NM_000102.4(CYP17A1):c.754-19C>T	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731235	NM_000102.4(CYP17A1):c.970-1G>C	CYP17A1, CYP17A1-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2731166	NM_000102.4(CYP17A1):c.970-17C>T	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718016	NM_000102.4(CYP17A1):c.918C>A (p.Thr306=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711200	NM_000102.4(CYP17A1):c.754-14C>A	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707280	NM_000102.4(CYP17A1):c.753+15A>C	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707086	NM_000102.4(CYP17A1):c.852A>G (p.Ser284=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702502	NM_000102.4(CYP17A1):c.783C>T (p.Asn261=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699262	NM_000102.4(CYP17A1):c.969+13C>G	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +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 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)	Deficiency of steroid 17-alpha-monooxygenase	GPathogenic
Select item 2681110	NM_000102.4(CYP17A1):c.667-16_680del	CYP17A1, CYP17A1-AS1	Deletion (splice acceptor variant)	not provided +1 more	GPathogenic
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)	not provided +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 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 2390634	NM_000102.4(CYP17A1):c.742G>A (p.Glu248Lys)	CYP17A1, CYP17A1-AS1 (E248K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304688	NM_000102.4(CYP17A1):c.962A>G (p.Asn321Ser)	CYP17A1, CYP17A1-AS1 (N321S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2115963	NM_000102.4(CYP17A1):c.846A>G (p.Gln282=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103524	NM_000102.4(CYP17A1):c.966T>C (p.Pro322=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067204	NM_000102.4(CYP17A1):c.754-10_754-9insAA	CYP17A1, CYP17A1-AS1	Insertion (intron variant)	not provided +1 more	GLikely benign
Select item 2016821	NM_000102.4(CYP17A1):c.684C>G (p.Thr228=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981432	NM_000102.4(CYP17A1):c.873C>T (p.His291=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928073	NM_000102.4(CYP17A1):c.753+9T>C	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896452	NM_000102.4(CYP17A1):c.930G>A (p.Val310=)	CYP17A1-AS1, CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1666705	NM_000102.4(CYP17A1):c.754-10C>T	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660774	NM_000102.4(CYP17A1):c.754-11A>C	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1621644	NM_000102.4(CYP17A1):c.834T>C (p.Ala278=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1619956	NM_000102.4(CYP17A1):c.909C>A (p.Gly303=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617293	NM_000102.4(CYP17A1):c.667-10T>C	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601279	NM_000102.4(CYP17A1):c.970-18A>G	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1572310	NM_000102.4(CYP17A1):c.970-8G>T	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1478370	NM_000102.4(CYP17A1):c.667-13_667-10del	CYP17A1, CYP17A1-AS1	Deletion (intron variant)	Congenital adrenal hyperplasia +2 more	GLikely pathogenic
Select item 1454713	NM_000102.4(CYP17A1):c.967C>T (p.Gln323Ter)	CYP17A1, CYP17A1-AS1 (Q323*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1417434	NM_000102.4(CYP17A1):c.849del (p.Ser284fs)	CYP17A1, CYP17A1-AS1 (S284fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1412755	NM_000102.4(CYP17A1):c.752del (p.Lys251fs)	CYP17A1, CYP17A1-AS1 (K251fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1343423	NM_000102.4(CYP17A1):c.776T>C (p.Ile259Thr)	CYP17A1-AS1, CYP17A1 (I259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1312906	NM_000102.4(CYP17A1):c.875T>G (p.Ile292Ser)	CYP17A1, CYP17A1-AS1 (I292S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251511	NM_000102.4(CYP17A1):c.969+75C>G	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241686	NM_000102.4(CYP17A1):c.754-251del	CYP17A1, CYP17A1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1209136	NM_000102.4(CYP17A1):c.754-266dup	CYP17A1, CYP17A1-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1193245	NM_000102.4(CYP17A1):c.753+155G>T	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1153661	NM_000102.4(CYP17A1):c.909C>T (p.Gly303=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1153090	NM_000102.4(CYP17A1):c.954G>T (p.Leu318=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1139025	NM_000102.4(CYP17A1):c.924C>T (p.Thr308=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1137200	NM_000102.4(CYP17A1):c.750C>T (p.Tyr250=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133116	NM_000102.4(CYP17A1):c.831T>C (p.Asn277=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1128937	NM_000102.4(CYP17A1):c.816C>T (p.Asn272=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1116871	NM_000102.4(CYP17A1):c.796C>T (p.Leu266=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1113634	NM_000102.4(CYP17A1):c.943C>T (p.Leu315=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1105485	NM_000102.4(CYP17A1):c.727C>T (p.Leu243=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1102556	NM_000102.4(CYP17A1):c.705T>C (p.His235=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1090382	NM_000102.4(CYP17A1):c.970-4T>G	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1080965	NM_000102.4(CYP17A1):c.754-12_754-3dup	CYP17A1, CYP17A1-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1080612	NM_000102.4(CYP17A1):c.777C>T (p.Ile259=)	CYP17A1, CYP17A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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