C0268285[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 749908	NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=)	CYP17A1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GLikely benign
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 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 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 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 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 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 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 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 298622	NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly)	CYP17A1 (S210G)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance
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 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 1086487	NM_000102.4(CYP17A1):c.315G>A (p.Ala105=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 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 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 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 725111	NM_000102.4(CYP17A1):c.180T>C (p.Tyr60=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 713245	NM_000102.4(CYP17A1):c.32C>T (p.Thr11Ile)	CYP17A1 (T11I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 651482	NM_000102.4(CYP17A1):c.1A>G (p.Met1Val)	CYP17A1 (M1V)	Single nucleotide variant (missense variant +1 more)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GLikely pathogenic
Select item 298628	NM_000102.4(CYP17A1):c.-15C>T	CYP17A1, LOC110408762	Single nucleotide variant (5 prime UTR variant)	Deficiency of steroid 17-alpha-monooxygenase	GUncertain significance

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Items: 27