ClinVar for MedGen (Select 82784) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2674687	NM_000498.3(CYP11B2):c.874G>A (p.Glu292Lys)	CYP11B2 (E292K)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency	GUncertain significance
Select item 1697321	NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro)	CYP11B2, LOC106799834 (S308P)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 1454609	NM_000498.3(CYP11B2):c.240-2A>G	CYP11B2, LOC106799834	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 1382371	NM_000498.3(CYP11B2):c.682G>T (p.Glu228Ter)	CYP11B2, LOC106799834 (E228*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1179210	GRCh37/hg19 8q24.3(chr8:143958418-143996344)	CYP11B1, CYP11B2	Copy number loss	Corticosterone 18-monooxygenase deficiency +1 more	GPathogenic
Select item 1177048	NM_000498.3(CYP11B2):c.1122-95T>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +1 more	GBenign
Select item 1177047	NM_000498.3(CYP11B2):c.1122-90C>G	LOC106799834, CYP11B2	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +1 more	GBenign
Select item 1177046	NM_000498.3(CYP11B2):c.1122-87C>G	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone methyloxidase type 2 deficiency +1 more	GBenign
Select item 1177045	NM_000498.3(CYP11B2):c.1122-48A>G	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +1 more	GBenign
Select item 1177044	NM_000498.3(CYP11B2):c.1122-20A>G	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +2 more	GBenign
Select item 1177020	NM_000498.3(CYP11B2):c.240-32C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +1 more	GBenign
Select item 1177019	NM_000498.3(CYP11B2):c.395+49G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone methyloxidase type 2 deficiency +1 more	GBenign
Select item 1177018	NM_000498.3(CYP11B2):c.396-303C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone methyloxidase type 2 deficiency +1 more	GBenign
Select item 1177017	NM_000498.3(CYP11B2):c.396-262G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone methyloxidase type 2 deficiency +1 more	GBenign
Select item 1177016	NM_000498.3(CYP11B2):c.396-191T>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +1 more	GBenign
Select item 1177006	NM_000498.3(CYP11B2):c.596-39T>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +1 more	GBenign
Select item 1177005	NM_000498.3(CYP11B2):c.799+140C>T	LOC106799834, CYP11B2	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +1 more	GBenign
Select item 1177004	NM_000498.3(CYP11B2):c.955-77A>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +1 more	GBenign
Select item 1177003	NM_000498.3(CYP11B2):c.1122-126T>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +1 more	GBenign
Select item 1153997	NM_000498.3(CYP11B2):c.1239_1240delinsCC (p.Ala414Pro)	CYP11B2, LOC106799834 (A414P)	Indel (missense variant)	not provided +2 more	GLikely benign
Select item 1147976	NM_000498.3(CYP11B2):c.144G>A (p.Arg48=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1142981	NM_000498.3(CYP11B2):c.237C>T (p.Phe79=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1124293	NM_000498.3(CYP11B2):c.996G>C (p.Arg332=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +2 more	GLikely benign
Select item 1119135	NM_000498.3(CYP11B2):c.799+10G>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1104480	NM_000498.3(CYP11B2):c.1201-8G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1103438	NM_000498.3(CYP11B2):c.93C>T (p.Ala31=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1101416	NM_000498.3(CYP11B2):c.72G>A (p.Leu24=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1099202	NM_000498.3(CYP11B2):c.978G>A (p.Thr326=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 990595	NM_000498.3(CYP11B2):c.59G>A (p.Arg20Lys)	CYP11B2, LOC106799834 (R20K)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 990593	NM_000498.3(CYP11B2):c.101C>T (p.Thr34Met)	CYP11B2, LOC106799834 (T34M)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +1 more	GUncertain significance
Select item 990585	NM_000498.3(CYP11B2):c.635T>C (p.Val212Ala)	CYP11B2, LOC106799834 (V212A)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +1 more	GUncertain significance
Select item 990154	NM_000498.3(CYP11B2):c.954+7C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +1 more	GUncertain significance
Select item 990152	NM_000498.3(CYP11B2):c.961T>A (p.Phe321Ile)	CYP11B2, LOC106799834 (F321I)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +1 more	GUncertain significance
Select item 990150	NM_000498.3(CYP11B2):c.1030A>G (p.Ser344Gly)	CYP11B2, LOC106799834 (S344G)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +1 more	GUncertain significance
Select item 990149	NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +2 more	GLikely benign
Select item 990148	NM_000498.3(CYP11B2):c.1096C>T (p.Arg366Trp)	CYP11B2, LOC106799834 (R366W)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +1 more	GUncertain significance
Select item 990144	NM_000498.3(CYP11B2):c.1265G>A (p.Arg422Gln)	CYP11B2, LOC106799834 (R422Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 911712	NM_000498.3(CYP11B2):c.845G>A (p.Arg282His)	CYP11B2, LOC106799834 (R282H)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911520	NM_000498.3(CYP11B2):c.*25A>C	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911397	NM_000498.3(CYP11B2):c.*876C>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911396	NM_000498.3(CYP11B2):c.*879G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911266	NM_000498.3(CYP11B2):c.*591T>G	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911265	NM_000498.3(CYP11B2):c.*613C>T	LOC106799834, CYP11B2	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911201	NM_000498.3(CYP11B2):c.*993A>G	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 910599	NM_000498.3(CYP11B2):c.427C>T (p.Arg143Trp)	CYP11B2, LOC106799834 (R143W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 910598	NM_000498.3(CYP11B2):c.449C>T (p.Ser150Leu)	CYP11B2, LOC106799834 (S150L)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 910373	NM_000498.3(CYP11B2):c.1201-9C>G	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 910372	NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val)	CYP11B2, LOC106799834 (F406V)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 910310	NM_000498.3(CYP11B2):c.*205G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 909735	NM_000498.3(CYP11B2):c.157C>T (p.Leu53=)	LOC106799834, CYP11B2	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 909610	NM_000498.3(CYP11B2):c.796T>G (p.Tyr266Asp)	CYP11B2, LOC106799834 (Y266D)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 909551	NM_000498.3(CYP11B2):c.924T>C (p.Ser308=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 909422	NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His)	CYP11B2, LOC106799834 (R448H)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 909344	NM_000498.3(CYP11B2):c.*298C>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone methyloxidase type 2 deficiency +2 more	GUncertain significance
Select item 908874	NM_000498.3(CYP11B2):c.280C>T (p.Pro94Ser)	CYP11B2, LOC106799834 (P94S)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908695	NM_000498.3(CYP11B2):c.979C>T (p.Leu327Phe)	CYP11B2, LOC106799834 (L327F)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 908631	NM_000498.3(CYP11B2):c.1136G>T (p.Gly379Val)	CYP11B2, LOC106799834 (G379V)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908562	NM_000498.3(CYP11B2):c.1398+10C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 908561	NM_000498.3(CYP11B2):c.1441A>T (p.Ile481Leu)	CYP11B2, LOC106799834 (I481L)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908560	NM_000498.3(CYP11B2):c.1454A>G (p.Tyr485Cys)	CYP11B2, LOC106799834 (Y485C)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908421	NM_000498.3(CYP11B2):c.*759A>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908354	NM_000498.3(CYP11B2):c.*1277G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908353	NM_000498.3(CYP11B2):c.*1340T>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 853826	NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met)	CYP11B2, LOC106799834 (T318M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 847988	NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer)	LOC106799834, CYP11B2	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 834390	NM_000498.3(CYP11B2):c.1398+1G>A	CYP11B2, LOC106799834	Single nucleotide variant (splice donor variant)	Corticosterone 18-monooxygenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 795339	NM_000498.3(CYP11B2):c.1086G>C (p.Leu362=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 794379	NM_000498.3(CYP11B2):c.39G>A (p.Ala13=)	LOC106799834, CYP11B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794365	NM_000498.3(CYP11B2):c.702C>T (p.Thr234=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +2 more	GLikely benign
Select item 792801	NM_000498.3(CYP11B2):c.843C>T (p.Asn281=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 787879	NM_000498.3(CYP11B2):c.679C>T (p.Leu227=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 787336	NM_000498.3(CYP11B2):c.1272T>C (p.Asn424=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 786818	NM_000498.3(CYP11B2):c.102G>A (p.Thr34=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783026	NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr)	LOC106799834, CYP11B2 (I248T)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 766470	NM_000498.3(CYP11B2):c.342G>A (p.Glu114=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 751289	NM_000498.3(CYP11B2):c.786C>T (p.Cys262=)	LOC106799834, CYP11B2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 741055	NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GBenign/Likely benign
Select item 740402	NM_000498.3(CYP11B2):c.9C>A (p.Leu3=)	LOC106799834, CYP11B2	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 727309	NM_000498.3(CYP11B2):c.414C>T (p.Arg138=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +2 more	GLikely benign
Select item 719973	NM_000498.3(CYP11B2):c.282G>A (p.Pro94=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718480	NM_000498.3(CYP11B2):c.801T>C (p.Gly267=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716151	NM_000498.3(CYP11B2):c.85G>A (p.Ala29Thr)	CYP11B2, LOC106799834 (A29T)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GBenign
Select item 714514	NM_000498.3(CYP11B2):c.78T>G (p.Thr26=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 711504	NM_000498.3(CYP11B2):c.435C>T (p.Asn145=)	LOC106799834, CYP11B2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 708361	NM_000498.3(CYP11B2):c.240-9del	LOC106799834, CYP11B2	Deletion (intron variant)	not provided	GBenign
Select item 658637	NM_000498.3(CYP11B2):c.954G>A (p.Thr318=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +3 more	GPathogenic
Select item 655196	NM_000498.3(CYP11B2):c.1200+1G>A	CYP11B2, LOC106799834	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 369596	NM_000498.3(CYP11B2):c.-14G>C	CYP11B2, LOC106799834 +1 more	Single nucleotide variant	Corticosterone methyloxidase type 2 deficiency +2 more	GLikely benign
Select item 362229	NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln)	CYP11B2, LOC106799834 (R30Q)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +3 more	GBenign
Select item 362228	NM_000498.3(CYP11B2):c.111G>A (p.Pro37=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +3 more	GBenign/Likely benign
Select item 362227	NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala)	CYP11B2, LOC106799834 (P86A)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GConflicting classifications of pathogenicity
Select item 362226	NM_000498.3(CYP11B2):c.352G>A (p.Ala118Thr)	CYP11B2, LOC106799834 (A118T)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +4 more	GConflicting classifications of pathogenicity
Select item 362225	NM_000498.3(CYP11B2):c.395+10G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 362224	NM_000498.3(CYP11B2):c.424T>C (p.Leu142=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 362223	NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu)	CYP11B2, LOC106799834 (P159L)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GLikely benign
Select item 362222	NM_000498.3(CYP11B2):c.477G>A (p.Pro159=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 362221	NM_000498.3(CYP11B2):c.504C>T (p.Phe168=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +4 more	GBenign
Select item 362220	NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg)	CYP11B2, LOC106799834 (K173R)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +4 more	GBenign

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