ClinVar for Gene (Select 1585) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337012	NM_000498.3(CYP11B2):c.1351C>T (p.Leu451Phe)	CYP11B2, LOC106799834 (L451F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3336078	NM_000498.3(CYP11B2):c.596-8_596-7delinsAG	CYP11B2, LOC106799834	Indel (intron variant)	not specified	GUncertain significance
Select item 3270492	NM_000498.3(CYP11B2):c.1190T>C (p.Ile397Thr)	CYP11B2, LOC106799834 (I397T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270491	NM_000498.3(CYP11B2):c.179G>A (p.Gly60Asp)	CYP11B2, LOC106799834 (G60D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270490	NM_000498.3(CYP11B2):c.1000C>A (p.Pro334Thr)	CYP11B2, LOC106799834 (P334T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251717	NM_000498.3(CYP11B2):c.1097G>A (p.Arg366Gln)	CYP11B2, LOC106799834 (R366Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245554	NC_000008.10:g.(?_143958078)_(143995854_?)dup	CYP11B1, CYP11B2	Duplication	not provided	GUncertain significance
Select item 3239593	NM_000498.3(CYP11B2):c.1503G>C (p.Ala501=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3079367	NM_000498.3(CYP11B2):c.367C>T (p.Arg123Cys)	CYP11B2, LOC106799834 (R123C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079366	NM_000498.3(CYP11B2):c.319C>T (p.His107Tyr)	CYP11B2, LOC106799834 (H107Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079365	NM_000498.3(CYP11B2):c.30C>G (p.Cys10Trp)	CYP11B2, LOC106799834 (C10W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3079363	NM_000498.3(CYP11B2):c.1237A>G (p.Asn413Asp)	CYP11B2, LOC106799834 (N413D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079362	NM_000498.3(CYP11B2):c.1063C>A (p.Pro355Thr)	CYP11B2, LOC106799834 (P355T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067734	NM_000498.3(CYP11B2):c.1349G>A (p.Cys450Tyr)	CYP11B2, LOC106799834 (C450Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3065791	NM_000498.3(CYP11B2):c.1398+2T>A	CYP11B2, LOC106799834	Single nucleotide variant (splice donor variant)	Corticosterone 18-monooxygenase deficiency	GUncertain significance
Select item 3064979	NM_000498.3(CYP11B2):c.395+9C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 3023625	NM_000498.3(CYP11B2):c.799+17G>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019519	NM_000498.3(CYP11B2):c.799+8C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012001	NM_000498.3(CYP11B2):c.858C>T (p.Tyr286=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009319	NM_000498.3(CYP11B2):c.1201-13G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007062	NM_000498.3(CYP11B2):c.1399G>A (p.Val467Met)	CYP11B2, LOC106799834 (V467M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003975	NM_000498.3(CYP11B2):c.954+16A>G	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000464	NM_000498.3(CYP11B2):c.596-15G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000398	NM_000498.3(CYP11B2):c.240-14G>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999450	NM_000498.3(CYP11B2):c.1002del (p.Asp335fs)	CYP11B2, LOC106799834 (D335fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2998322	NM_000498.3(CYP11B2):c.1326C>G (p.Pro442=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997073	NM_000498.3(CYP11B2):c.300G>A (p.Leu100=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993092	NM_000498.3(CYP11B2):c.596-17G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992301	NM_000498.3(CYP11B2):c.1440C>T (p.Asp480=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991698	NM_000498.3(CYP11B2):c.453C>A (p.Pro151=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989059	NM_000498.3(CYP11B2):c.799+18G>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988868	NM_000498.3(CYP11B2):c.627G>T (p.Leu209=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987719	NM_000498.3(CYP11B2):c.1210C>T (p.Gln404Ter)	CYP11B2, LOC106799834 (Q404*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2986768	NM_000498.3(CYP11B2):c.240-16C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985952	NM_000498.3(CYP11B2):c.1121+15A>G	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985386	NM_000498.3(CYP11B2):c.552G>T (p.Leu184=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984333	NM_000498.3(CYP11B2):c.980T>C (p.Leu327Pro)	CYP11B2, LOC106799834 (L327P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983211	NM_000498.3(CYP11B2):c.65_77del (p.Arg22fs)	CYP11B2, LOC106799834 (R22fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2982591	NM_000498.3(CYP11B2):c.955-5T>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980816	NM_000498.3(CYP11B2):c.774G>A (p.Glu258=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978767	NM_000498.3(CYP11B2):c.596-10C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967317	NM_000498.3(CYP11B2):c.1398+12T>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961884	NM_000498.3(CYP11B2):c.239+2T>C	CYP11B2, LOC106799834	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2919975	NM_000498.3(CYP11B2):c.1398+12T>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919427	NM_000498.3(CYP11B2):c.800-12C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918113	NM_000498.3(CYP11B2):c.1200+10C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917838	NM_000498.3(CYP11B2):c.800-16C>G	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916904	NM_000498.3(CYP11B2):c.1200+18C>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914592	NM_000498.3(CYP11B2):c.799+16C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914287	NM_000498.3(CYP11B2):c.132T>C (p.His44=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913365	NM_000498.3(CYP11B2):c.1399-15C>G	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913070	NM_000498.3(CYP11B2):c.595+11T>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912781	NM_000498.3(CYP11B2):c.1197T>G (p.Ala399=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910887	NM_000498.3(CYP11B2):c.799+19G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910425	NM_000498.3(CYP11B2):c.1398+14G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909035	NM_000498.3(CYP11B2):c.705C>G (p.Val235=)	LOC106799834, CYP11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907995	NM_000498.3(CYP11B2):c.1200+13C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902098	NM_000498.3(CYP11B2):c.1098G>A (p.Arg366=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901273	NM_000498.3(CYP11B2):c.800-15C>G	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900854	NM_000498.3(CYP11B2):c.1121G>A (p.Arg374Gln)	CYP11B2, LOC106799834 (R374Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2899514	NM_000498.3(CYP11B2):c.900A>G (p.Ser300=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895135	NM_000498.3(CYP11B2):c.624G>C (p.Arg208=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893232	NM_000498.3(CYP11B2):c.1485C>G (p.Pro495=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890941	NM_000498.3(CYP11B2):c.1200+17C>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887524	NM_000498.3(CYP11B2):c.1290C>T (p.Asp430=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886842	NM_000498.3(CYP11B2):c.955-14C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885610	NM_000498.3(CYP11B2):c.595+19G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885460	NM_000498.3(CYP11B2):c.954+11C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883260	NM_000498.3(CYP11B2):c.800-13G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882483	NM_000498.3(CYP11B2):c.294G>A (p.Glu98=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882320	NM_000498.3(CYP11B2):c.596-9T>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879101	NM_000498.3(CYP11B2):c.396-15C>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877092	NM_000498.3(CYP11B2):c.240-6C>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874071	NM_000498.3(CYP11B2):c.395+9C>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873231	NM_000498.3(CYP11B2):c.1509C>T (p.Asn503=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871825	NM_000498.3(CYP11B2):c.240-1G>C	CYP11B2, LOC106799834	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2871783	NM_000498.3(CYP11B2):c.1201-14T>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870898	NM_000498.3(CYP11B2):c.1357C>A (p.Arg453=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869070	NM_000498.3(CYP11B2):c.240-13C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865422	NM_000498.3(CYP11B2):c.1086G>T (p.Leu362=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861588	NM_000498.3(CYP11B2):c.595+7G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861445	NM_000498.3(CYP11B2):c.800-2A>C	CYP11B2, LOC106799834	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2859513	NM_000498.3(CYP11B2):c.399T>C (p.Asn133=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858485	NM_000498.3(CYP11B2):c.1398+17G>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857855	NM_000498.3(CYP11B2):c.596-19C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857594	NM_000498.3(CYP11B2):c.711C>A (p.Leu237=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856596	NM_000498.3(CYP11B2):c.678C>T (p.Ala226=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855892	NM_000498.3(CYP11B2):c.258A>C (p.Pro86=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855321	NM_000498.3(CYP11B2):c.79A>T (p.Arg27Ter)	CYP11B2, LOC106799834 (R27*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2850529	NM_000498.3(CYP11B2):c.1398+17G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850291	NM_000498.3(CYP11B2):c.58A>C (p.Arg20=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848759	NM_000498.3(CYP11B2):c.1230G>C (p.Leu410=)	LOC106799834, CYP11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846368	NM_000498.3(CYP11B2):c.800-20G>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844300	NM_000498.3(CYP11B2):c.726del (p.Ser243fs)	CYP11B2, LOC106799834 (S243fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2842135	NM_000498.3(CYP11B2):c.111G>T (p.Pro37=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840859	NM_000498.3(CYP11B2):c.799+14C>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836534	NM_000498.3(CYP11B2):c.1254G>A (p.Pro418=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835917	NM_000498.3(CYP11B2):c.1200+20del	CYP11B2, LOC106799834	Deletion (intron variant)	not provided	GBenign

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