C0342488[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447526	NM_000196.4(HSD11B2):c.440G>A (p.Arg147His)	HSD11B2 (R147H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 12096	NM_000196.4(HSD11B2):c.623G>A (p.Arg208His)	HSD11B2 (R208H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 723515	NM_000196.4(HSD11B2):c.664+16dup	HSD11B2	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1169108	NM_000196.4(HSD11B2):c.817G>A (p.Val273Met)	HSD11B2 (V273M)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess +1 more	GBenign/Likely benign
Select item 1486263	NM_000196.4(HSD11B2):c.935G>A (p.Arg312His)	HSD11B2 (R312H)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess +1 more	GUncertain significance
Select item 804920	NM_000196.4(HSD11B2):c.949G>A (p.Asp317Asn)	HSD11B2 (D317N)	Single nucleotide variant (missense variant)	Apparent mineralocorticoid excess +1 more	GUncertain significance
Select item 12097	NM_000196.4(HSD11B2):c.1010_1012del (p.Arg337_Tyr338delinsHis)	HSD11B2	Deletion (inframe_indel)	Apparent mineralocorticoid excess	GLikely pathogenic
Select item 755623	NM_000196.4(HSD11B2):c.1072C>T (p.Leu358=)	HSD11B2	Single nucleotide variant (synonymous variant)	Apparent mineralocorticoid excess +1 more	GLikely benign
Select item 731191	NM_000196.4(HSD11B2):c.1164C>T (p.Asp388=)	HSD11B2	Single nucleotide variant (synonymous variant)	Apparent mineralocorticoid excess +1 more	GLikely benign