"GeneDx"[submitter] AND "CYP17A1"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 1271411	NM_000102.4(CYP17A1):c.1140-25C>A	CYP17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296537	NM_000102.4(CYP17A1):c.1140-271C>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242949	NM_000102.4(CYP17A1):c.1139+143C>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263514	NM_000102.4(CYP17A1):c.1139+79C>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 137063	NM_000102.4(CYP17A1):c.1139+19T>G	CYP17A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1251511	NM_000102.4(CYP17A1):c.969+75C>G	CYP17A1, CYP17A1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1209136	NM_000102.4(CYP17A1):c.754-266dup	CYP17A1, CYP17A1-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1241686	NM_000102.4(CYP17A1):c.754-251del	CYP17A1, CYP17A1-AS1	Deletion (intron variant)	not provided	GBenign
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 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 1225613	NM_000102.4(CYP17A1):c.666+141A>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 762786	NM_000102.4(CYP17A1):c.437-52G>A	CYP17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 761706	NM_000102.4(CYP17A1):c.437-83C>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2136931	NM_000102.4(CYP17A1):c.362G>A (p.Trp121Ter)	CYP17A1 (W121*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 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 1292585	NM_000102.4(CYP17A1):c.298-99C>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276128	NM_000102.4(CYP17A1):c.298-271A>C	CYP17A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1785	NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)	CYP17A1 (R96W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 298624	NM_000102.4(CYP17A1):c.195G>T (p.Ser65=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 298625	NM_000102.4(CYP17A1):c.138C>T (p.His46=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 298626	NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys)	CYP17A1 (R21K)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +1 more	GConflicting classifications of pathogenicity
Select item 298627	NM_000102.4(CYP17A1):c.-14G>A	CYP17A1, LOC110408762	Single nucleotide variant (5 prime UTR variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GConflicting classifications of pathogenicity
Select item 298630	NM_000102.4(CYP17A1):c.-34T>C	CYP17A1, LOC110408762	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1191355	NC_000010.11:g.102837551G>A	CYP17A1, LOC110408762	Single nucleotide variant	not provided	GLikely benign
Select item 1247676	NC_000010.11:g.102837723T>C	CYP17A1, LOC110408762	Single nucleotide variant	not provided	GBenign
Select item 1274699	NC_000010.11:g.102837817dup	CYP17A1, LOC110408762	Duplication	not provided	GBenign
Select item 1205728	NC_000010.11:g.102837817del	CYP17A1, LOC110408762	Deletion	not provided	GLikely benign
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 41