Related gene-specific medical variations for Gene (Select 190) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243899	NC_000023.10:g.(?_30322696)_(30327480_?)dup	NR0B1	Duplication	Congenital adrenal hypoplasia, X-linked +1 more	GPathogenic
Select item 2432304	NM_000475.5(NR0B1):c.833T>C (p.Leu278Pro)	NR0B1 (L278P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1184475	NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro)	NR0B1 (L266P)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GLikely pathogenic
Select item 994658	NM_000475.5(NR0B1):c.998_1001dup (p.Pro335fs)	NR0B1 (P335fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 994657	NM_000475.5(NR0B1):c.986_987delinsA (p.Gly329fs)	NR0B1 (G329fs)	Indel (frameshift variant)	not provided	GPathogenic
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 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 591253	NM_000475.5(NR0B1):c.1354A>T (p.Ile452Phe)	NR0B1 (I452F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 393966	GRCh37/hg19 Xp21.2(chrX:30326814-30327501)x2	NR0B1	Copy number gain	See cases	GBenign
Select item 151565	GRCh38/hg38 Xp21.2(chrX:30303676-30307893)x1	NR0B1	Copy number loss	See cases	GUncertain significance
Select item 55874	NM_000475.5(NR0B1):c.1274G>T (p.Arg425Ile)	NR0B1 (R425I)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 10972	NR0B1, 1-BP INS, 430G	NR0B1	Insertion	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 10966	NG_009814.1:g.(?_4989)_(10173_?)del	NR0B1	Deletion	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 10962	NC_000023.11:g.(?_30304206_30309390_?)dup	NR0B1	Duplication	46,XY sex reversal 2	GPathogenic