Related gene-specific medical variations for Gene (Select 1584) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375148	NM_000497.4(CYP11B1):c.428G>A (p.Arg143Gln)	CYP11B1, LOC106799833 (R143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3375147	NM_000497.4(CYP11B1):c.895C>A (p.Leu299Met)	CYP11B1, LOC106799833 (L299M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366374	NM_000497.4(CYP11B1):c.950A>T (p.Asp317Val)	CYP11B1, LOC106799833 (D317V)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 3352442	NM_000497.4(CYP11B1):c.783C>G (p.Asp261Glu)	CYP11B1, LOC106799833 (D261E)	Single nucleotide variant (missense variant)	CYP11B1-related disorder	GUncertain significance
Select item 3339562	NM_000497.4(CYP11B1):c.1393C>T (p.His465Tyr)	CYP11B1, LOC106799833 (H465Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270489	NM_000497.4(CYP11B1):c.938C>A (p.Ala313Glu)	CYP11B1, LOC106799833 (A313E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270488	NM_000497.4(CYP11B1):c.845G>A (p.Arg282His)	CYP11B1, LOC106799833 (R282H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251891	NM_000497.4(CYP11B1):c.1111G>A (p.Glu371Lys)	CYP11B1, LOC106799833 (E371K)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 3245553	NC_000008.10:g.(?_143955789)_(143961229_?)del	CYP11B1	Deletion	not provided	GPathogenic
Select item 3241262	NM_000497.4(CYP11B1):c.228del (p.Ile78fs)	CYP11B1 (I78fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 3241261	NM_000497.4(CYP11B1):c.1136del (p.Gly379fs)	CYP11B1, LOC106799833 (G379fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 3241260	NM_000497.4(CYP11B1):c.955-2A>G	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 3233822	NM_000497.4(CYP11B1):c.593_594delinsGT (p.Glu198Gly)	CYP11B1, LOC106799833 (E198G)	Indel (missense variant)	not specified	GUncertain significance
Select item 3233745	NM_000497.4(CYP11B1):c.1231G>A (p.Gly411Ser)	CYP11B1, LOC106799833 (G411S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079361	NM_000497.4(CYP11B1):c.868G>A (p.Val290Met)	CYP11B1, LOC106799833 (V290M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079360	NM_000497.4(CYP11B1):c.650G>A (p.Ser217Asn)	CYP11B1, LOC106799833 (S217N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079357	NM_000497.4(CYP11B1):c.1291A>T (p.Ile431Phe)	CYP11B1, LOC106799833 (I431F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079356	NM_000497.4(CYP11B1):c.1123C>A (p.Leu375Ile)	CYP11B1, LOC106799833 (L375I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079355	NM_000497.4(CYP11B1):c.1081G>A (p.Glu361Lys)	CYP11B1, LOC106799833 (E361K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054343	NM_000497.4(CYP11B1):c.-10G>A	CYP11B1, LOC110673972	Single nucleotide variant (5 prime UTR variant)	CYP11B1-related disorder	GLikely benign
Select item 3023885	NM_000497.4(CYP11B1):c.955-14T>C	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022135	NM_000497.4(CYP11B1):c.954+20C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021675	NM_000497.4(CYP11B1):c.800-12C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018797	NM_000497.4(CYP11B1):c.609T>C (p.Ala203=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018061	NM_000497.4(CYP11B1):c.896T>A (p.Leu299Gln)	CYP11B1, LOC106799833 (L299Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3017205	NM_000497.4(CYP11B1):c.1236C>T (p.Arg412=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017017	NM_000497.4(CYP11B1):c.1122-11C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016796	NM_000497.4(CYP11B1):c.395+18A>C	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014402	NM_000497.4(CYP11B1):c.799+9A>G	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009958	NM_000497.4(CYP11B1):c.1200+15C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009451	NM_000497.4(CYP11B1):c.648C>G (p.Pro216=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008561	NM_000497.4(CYP11B1):c.1201-17C>G	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008401	NM_000497.4(CYP11B1):c.978G>A (p.Thr326=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004857	NM_000497.4(CYP11B1):c.765G>A (p.Glu255=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002184	NM_000497.4(CYP11B1):c.1282T>G (p.Trp428Gly)	CYP11B1, LOC106799833 (W428G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2998597	NM_000497.4(CYP11B1):c.522G>A (p.Lys174=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997834	NM_000497.4(CYP11B1):c.1398+12dup	LOC106799833, CYP11B1	Duplication (intron variant)	not provided	GLikely benign
Select item 2996463	NM_000497.4(CYP11B1):c.1170G>A (p.Leu390=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993389	NM_000497.4(CYP11B1):c.1356G>A (p.Gly452=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2989473	NM_000497.4(CYP11B1):c.1398+17T>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978944	NM_000497.4(CYP11B1):c.1398+12C>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976112	NM_000497.4(CYP11B1):c.1206G>A (p.Leu402=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975750	NM_000497.4(CYP11B1):c.1200+17C>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975714	NM_000497.4(CYP11B1):c.595+15G>C	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967196	NM_000497.4(CYP11B1):c.954+12A>C	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965060	NM_000497.4(CYP11B1):c.405T>C (p.Pro135=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964931	NM_000497.4(CYP11B1):c.1398+12C>G	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956514	NM_000497.4(CYP11B1):c.595+11C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956513	NM_000497.4(CYP11B1):c.595+13T>C	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956512	NM_000497.4(CYP11B1):c.595+20A>G	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919304	NM_000497.4(CYP11B1):c.954+14C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918226	NM_000497.4(CYP11B1):c.607G>A (p.Ala203Thr)	CYP11B1, LOC106799833 (A203T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917535	NM_000497.4(CYP11B1):c.799+16C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916778	NM_000497.4(CYP11B1):c.1209G>T (p.Val403=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2916774	NM_000497.4(CYP11B1):c.427C>A (p.Arg143=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913096	NM_000497.4(CYP11B1):c.430C>T (p.Leu144=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909757	NM_000497.4(CYP11B1):c.737G>C (p.Arg246Pro)	CYP11B1, LOC106799833 (R246P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908849	NM_000497.4(CYP11B1):c.1201-15C>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903823	NM_000497.4(CYP11B1):c.879_890delinsGTCGCCAGAT (p.Leu294fs)	CYP11B1, LOC106799833 (L294fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2892259	NM_000497.4(CYP11B1):c.1398+18G>C	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884237	NM_000497.4(CYP11B1):c.800-19C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880121	NM_000497.4(CYP11B1):c.531G>A (p.Leu177=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875286	NM_000497.4(CYP11B1):c.1201-9C>G	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873069	NM_000497.4(CYP11B1):c.595+19dup	CYP11B1, LOC106799833	Duplication (intron variant)	not provided	GLikely benign
Select item 2866327	NM_000497.4(CYP11B1):c.1212C>T (p.Arg404=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2866268	NM_000497.4(CYP11B1):c.612T>C (p.Leu204=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864696	NM_000497.4(CYP11B1):c.1368A>G (p.Ala456=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2864690	NM_000497.4(CYP11B1):c.1074A>G (p.Ala358=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862063	NM_000497.4(CYP11B1):c.596-11C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860310	NM_000497.4(CYP11B1):c.800-7C>G	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859435	NM_000497.4(CYP11B1):c.1149G>A (p.Glu383=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850392	NM_000497.4(CYP11B1):c.984T>C (p.Phe328=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848487	NM_000497.4(CYP11B1):c.615T>C (p.Phe205=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847373	NM_000497.4(CYP11B1):c.1122-13C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846976	NM_000497.4(CYP11B1):c.1350C>A (p.Cys450Ter)	CYP11B1, LOC106799833 (C450*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2846486	NM_000497.4(CYP11B1):c.800-13G>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842598	NM_000497.4(CYP11B1):c.687C>G (p.Val229=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841744	NM_000497.4(CYP11B1):c.1121+11G>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840010	NM_000497.4(CYP11B1):c.1121+20T>C	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839063	NM_000497.4(CYP11B1):c.1044A>G (p.Ala348=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838780	NM_000497.4(CYP11B1):c.9C>G (p.Leu3=)	LOC110673972, CYP11B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835304	NM_000497.4(CYP11B1):c.558G>A (p.Leu186=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835199	NM_000497.4(CYP11B1):c.960G>A (p.Val320=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833202	NM_000497.4(CYP11B1):c.699C>T (p.Ser233=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832017	NM_000497.4(CYP11B1):c.1248G>A (p.Leu416=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2824862	NM_000497.4(CYP11B1):c.1416G>A (p.Gln472=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824606	NM_000497.4(CYP11B1):c.1354G>C (p.Gly452Arg)	CYP11B1, LOC106799833 (G452R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2823769	NM_000497.4(CYP11B1):c.1359G>A (p.Arg453=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2823328	NM_000497.4(CYP11B1):c.799+20C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822794	NM_000497.4(CYP11B1):c.1509C>T (p.Asn503=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820739	NM_000497.4(CYP11B1):c.1268A>G (p.Tyr423Cys)	CYP11B1, LOC106799833 (Y423C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2820732	NM_000497.4(CYP11B1):c.426G>A (p.Leu142=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812797	NM_000497.4(CYP11B1):c.1503C>T (p.Ala501=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799579	NM_000497.4(CYP11B1):c.954+18C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798574	NM_000497.4(CYP11B1):c.438A>G (p.Pro146=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798540	NM_000497.4(CYP11B1):c.799+11G>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798028	NM_000497.4(CYP11B1):c.1201-10C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793784	NM_000497.4(CYP11B1):c.1158G>C (p.Ala386=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790602	NM_000497.4(CYP11B1):c.768C>T (p.His256=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787004	NM_000497.4(CYP11B1):c.1224C>T (p.Tyr408=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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