"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NR0B1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1205002	NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met)	NR0B1 (I470M)	Single nucleotide variant (missense variant)	NR0B1-related disorder +3 more	GBenign/Likely benign
Select item 1541353	NM_000475.5(NR0B1):c.1176G>A (p.Pro392=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GBenign/Likely benign
Select item 703336	NM_000475.5(NR0B1):c.1029G>A (p.Leu343=)	NR0B1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 706442	NM_000475.5(NR0B1):c.993C>T (p.Asn331=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GBenign/Likely benign
Select item 705919	NM_000475.5(NR0B1):c.870C>T (p.Cys290=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GBenign
Select item 429744	NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)	NR0B1 (W236*)	Single nucleotide variant (nonsense)	Congenital adrenal hypoplasia, X-linked +2 more	GPathogenic
Select item 1415295	NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr)	NR0B1 (A233T)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 766785	NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp)	NR0B1 (C200W)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GBenign/Likely benign
Select item 591276	NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln)	NR0B1 (R198Q)	Indel (missense variant)	46,XY sex reversal 2 +1 more	GUncertain significance
Select item 703375	NM_000475.5(NR0B1):c.588G>A (p.Leu196=)	NR0B1	Single nucleotide variant (synonymous variant)	NR0B1-related disorder +2 more	GBenign/Likely benign
Select item 1132761	NM_000475.5(NR0B1):c.469C>T (p.His157Tyr)	NR0B1 (H157Y)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 10978	NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys)	NR0B1 (W105C)	Single nucleotide variant (missense variant)	46,XY sex reversal 2 +1 more	GConflicting classifications of pathogenicity
Select item 591652	NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu)	NR0B1 (P103L)	Indel (missense variant)	46,XY sex reversal 2 +1 more	GUncertain significance
Select item 1696140	NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly)	NR0B1 (A20G)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance