ClinVar for Gene (Select 1586) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342255	Single allele	ACTR1A, ARL3 +35 more	Deletion	See cases	GPathogenic
Select item 3336298	NM_000102.4(CYP17A1):c.985T>C (p.Tyr329His)	CYP17A1 (Y329H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270494	NM_000102.4(CYP17A1):c.853G>A (p.Glu285Lys)	CYP17A1, CYP17A1-AS1 (E285K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3270493	NM_000102.4(CYP17A1):c.589G>A (p.Val197Ile)	CYP17A1 (V197I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3251818	NM_000102.4(CYP17A1):c.1063G>A (p.Ala355Thr)	CYP17A1 (A355T)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
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 3233937	NM_000102.4(CYP17A1):c.361T>A (p.Trp121Arg)	CYP17A1 (W121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3079370	NM_000102.4(CYP17A1):c.1423T>A (p.Ser475Thr)	CYP17A1 (S475T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079368	NM_000102.4(CYP17A1):c.1162A>G (p.Lys388Glu)	CYP17A1 (K388E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063869	NM_000102.4(CYP17A1):c.484G>A (p.Gly162Arg)	CYP17A1 (G162R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3023626	NM_000102.4(CYP17A1):c.327T>G (p.Arg109=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022685	NM_000102.4(CYP17A1):c.437-11del	CYP17A1	Deletion (intron variant)	not provided	GLikely benign
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 3018780	NM_000102.4(CYP17A1):c.298-15del	CYP17A1	Deletion (intron variant)	not provided	GLikely benign
Select item 3009338	NM_000102.4(CYP17A1):c.606T>C (p.Asn202=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007285	NM_000102.4(CYP17A1):c.249G>A (p.Lys83=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005866	NM_000102.4(CYP17A1):c.297+1G>T	CYP17A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2999072	NM_000102.4(CYP17A1):c.625C>T (p.Leu209=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994235	NM_000102.4(CYP17A1):c.1139+11C>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988152	NM_000102.4(CYP17A1):c.1422C>T (p.Pro474=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987515	NM_000102.4(CYP17A1):c.1243+20C>A	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986084	NM_000102.4(CYP17A1):c.666+14A>G	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985881	NM_000102.4(CYP17A1):c.1244-19T>C	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983942	NM_000102.4(CYP17A1):c.1243+17C>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980112	NM_000102.4(CYP17A1):c.437-16C>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978281	NM_000102.4(CYP17A1):c.1244-17C>A	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972671	NM_000102.4(CYP17A1):c.1304T>C (p.Phe435Ser)	CYP17A1 (F435S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2970583	NM_000102.4(CYP17A1):c.753+12_753+13del	CYP17A1, CYP17A1-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2968697	NM_000102.4(CYP17A1):c.354C>A (p.Gly118=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967668	NM_000102.4(CYP17A1):c.258T>A (p.Leu86=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966186	NM_000102.4(CYP17A1):c.437-12C>G	CYP17A1	Single nucleotide variant (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 2963438	NM_000102.4(CYP17A1):c.336C>T (p.Ile112=)	CYP17A1	Single nucleotide variant (synonymous 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 2954957	NM_000102.4(CYP17A1):c.1360C>T (p.Leu454Phe)	CYP17A1 (L454F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954943	NM_000102.4(CYP17A1):c.1266G>A (p.Gly422=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919862	NM_000102.4(CYP17A1):c.666+15G>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919370	NM_000102.4(CYP17A1):c.1122G>A (p.Lys374=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917453	NM_000102.4(CYP17A1):c.528C>T (p.Thr176=)	CYP17A1	Single nucleotide variant (synonymous 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 2912999	NM_000102.4(CYP17A1):c.1244-25_1244-20del	CYP17A1	Deletion (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 2905867	NM_000102.4(CYP17A1):c.297+17T>A	CYP17A1	Single nucleotide variant (intron 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 2891013	NM_000102.4(CYP17A1):c.297+14A>G	CYP17A1	Single nucleotide variant (intron 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 2884668	NM_000102.4(CYP17A1):c.1244-12C>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882439	NM_000102.4(CYP17A1):c.287G>T (p.Arg96Leu)	CYP17A1 (R96L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2877192	NM_000102.4(CYP17A1):c.437-18T>C	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875207	NM_000102.4(CYP17A1):c.1039C>G (p.Arg347Gly)	CYP17A1 (R347G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2873979	NM_000102.4(CYP17A1):c.298-7T>C	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862817	NM_000102.4(CYP17A1):c.1269C>T (p.Thr423=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861760	NM_000102.4(CYP17A1):c.1059G>A (p.Leu353=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860197	NM_000102.4(CYP17A1):c.99C>A (p.Ser33=)	CYP17A1	Single nucleotide variant (synonymous 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 2852418	NM_000102.4(CYP17A1):c.1438_1439insT (p.Pro480fs)	CYP17A1 (P480fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2852312	NM_000102.4(CYP17A1):c.1503A>G (p.Glu501=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848546	NM_000102.4(CYP17A1):c.1521C>T (p.Ser507=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2841398	NM_000102.4(CYP17A1):c.1515G>C (p.Glu505Asp)	CYP17A1 (E505D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2835218	NM_000102.4(CYP17A1):c.436+1G>T	CYP17A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 2832504	NM_000102.4(CYP17A1):c.437-12C>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832472	NM_000102.4(CYP17A1):c.1008G>A (p.Val336=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831835	NM_000102.4(CYP17A1):c.436+15G>A	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831741	NM_000102.4(CYP17A1):c.437-16C>A	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830812	NM_000102.4(CYP17A1):c.1244-4G>A	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830355	NM_000102.4(CYP17A1):c.298-15G>T	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829700	NM_000102.4(CYP17A1):c.528C>G (p.Thr176=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820635	NM_000102.4(CYP17A1):c.1352A>C (p.Glu451Ala)	CYP17A1 (E451A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819752	NM_000102.4(CYP17A1):c.1140-7G>C	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812157	NM_000102.4(CYP17A1):c.1086C>T (p.Arg362=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811911	NM_000102.4(CYP17A1):c.326_339del (p.Arg109fs)	CYP17A1 (R109fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2809742	NM_000102.4(CYP17A1):c.393C>T (p.Thr131=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808597	NM_000102.4(CYP17A1):c.381G>A (p.Leu127=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808416	NM_000102.4(CYP17A1):c.513C>T (p.Val171=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807555	NM_000102.4(CYP17A1):c.996T>C (p.Ile332=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806752	NM_000102.4(CYP17A1):c.222G>T (p.Val74=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798452	NM_000102.4(CYP17A1):c.534C>T (p.Val178=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797585	NM_000102.4(CYP17A1):c.1113C>A (p.Ile371=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797536	NM_000102.4(CYP17A1):c.666+12C>T	CYP17A1	Single nucleotide variant (intron 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 2794167	NM_000102.4(CYP17A1):c.312C>A (p.Ile104=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792546	NM_000102.4(CYP17A1):c.117C>T (p.Ser39=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787371	NM_000102.4(CYP17A1):c.1395G>A (p.Leu465=)	CYP17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787239	NM_000102.4(CYP17A1):c.666+20G>A	CYP17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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