"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CYP11B2"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 990144	NM_000498.3(CYP11B2):c.1265G>A (p.Arg422Gln)	CYP11B2, LOC106799834 (R422Q)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
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 1104480	NM_000498.3(CYP11B2):c.1201-8G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +2 more	GLikely benign
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 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 990149	NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 1124293	NM_000498.3(CYP11B2):c.996G>C (p.Arg332=)	LOC106799834, CYP11B2	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)	Corticosterone 18-monooxygenase deficiency +2 more	GLikely benign
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 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 658637	NM_000498.3(CYP11B2):c.954G>A (p.Thr318=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +3 more	GPathogenic
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 362205	NM_000498.3(CYP11B2):c.945C>T (p.Ser315=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GBenign/Likely benign
Select item 362208	NM_000498.3(CYP11B2):c.867C>T (p.Ile289=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 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 362210	NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser)	LOC106799834, CYP11B2 (N281S)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +3 more	GBenign/Likely benign
Select item 1119135	NM_000498.3(CYP11B2):c.799+10G>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone methyloxidase type 2 deficiency +2 more	GLikely benign
Select item 751289	NM_000498.3(CYP11B2):c.786C>T (p.Cys262=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 794365	NM_000498.3(CYP11B2):c.702C>T (p.Thr234=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1382371	NM_000498.3(CYP11B2):c.682G>T (p.Glu228Ter)	CYP11B2, LOC106799834 (E228*)	Single nucleotide variant (nonsense)	Corticosterone 18-monooxygenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 787879	NM_000498.3(CYP11B2):c.679C>T (p.Leu227=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +2 more	GBenign/Likely benign
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 362215	NM_000498.3(CYP11B2):c.606A>G (p.Leu202=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +3 more	GBenign/Likely benign
Select item 242702	NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp)	CYP11B2, LOC106799834 (E198D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 16881	NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)	CYP11B2, LOC106799834 (T185I)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 362220	NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg)	CYP11B2, LOC106799834 (K173R)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +4 more	GBenign
Select item 711504	NM_000498.3(CYP11B2):c.435C>T (p.Asn145=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 1454609	NM_000498.3(CYP11B2):c.240-2A>G	CYP11B2, LOC106799834	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 1142981	NM_000498.3(CYP11B2):c.237C>T (p.Phe79=)	LOC106799834, CYP11B2	Single nucleotide variant (synonymous 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 362228	NM_000498.3(CYP11B2):c.111G>A (p.Pro37=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GBenign/Likely benign
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 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 714514	NM_000498.3(CYP11B2):c.78T>G (p.Thr26=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +3 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 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 1179210	GRCh37/hg19 8q24.3(chr8:143958418-143996344)	CYP11B1, CYP11B2	Copy number loss	Corticosterone 18-monooxygenase deficiency +1 more	GPathogenic

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Items: 42