ClinVar for MedGen (Select 87442) - ClinVar - NCBI

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	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 3066153	NM_000475.5(NR0B1):c.1346T>C (p.Phe449Ser)	NR0B1 (F449S)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GUncertain significance
Select item 2954548	NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu)	NR0B1 (P188L)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +2 more	GUncertain significance
Select item 2954415	NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg)	NR0B1 (G77R)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GUncertain significance
Select item 2954059	NM_000475.5(NR0B1):c.1169-10C>T	NR0B1	Single nucleotide variant (intron variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2953548	NM_000475.5(NR0B1):c.279A>T (p.Ala93=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2953479	NM_000475.5(NR0B1):c.696G>A (p.Arg232=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2953125	NM_000475.5(NR0B1):c.1062C>T (p.Ser354=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2952970	NM_000475.5(NR0B1):c.645C>T (p.Cys215=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2952850	NM_000475.5(NR0B1):c.897G>A (p.Leu299=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2952803	NM_000475.5(NR0B1):c.160C>T (p.Leu54=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2952759	NM_000475.5(NR0B1):c.363G>A (p.Pro121=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2952694	NM_000475.5(NR0B1):c.828G>A (p.Gln276=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2952398	NM_000475.5(NR0B1):c.966C>T (p.Thr322=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2952330	NM_000475.5(NR0B1):c.367G>A (p.Gly123Arg)	NR0B1 (G123R)	Single nucleotide variant (missense variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2951794	NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2951735	NM_000475.5(NR0B1):c.159G>T (p.Gly53=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2951674	NM_000475.5(NR0B1):c.693G>A (p.Pro231=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2951215	NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)	NR0B1	Deletion (nonsense)	46,XY sex reversal 2 +1 more	GPathogenic
Select item 2950390	NM_000475.5(NR0B1):c.1023C>T (p.His341=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2950342	NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)	NR0B1 (T384I)	Single nucleotide variant (missense variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2949613	NM_000475.5(NR0B1):c.339C>T (p.Pro113=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2949477	NM_000475.5(NR0B1):c.432C>T (p.Ser144=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2949366	NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro)	NR0B1 (A170P)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2948980	NM_000475.5(NR0B1):c.489C>G (p.Pro163=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2948550	NM_000475.5(NR0B1):c.281C>A (p.Pro94Gln)	NR0B1 (P94Q)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2948371	NM_000475.5(NR0B1):c.192C>T (p.Tyr64=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2948264	NM_000475.5(NR0B1):c.762C>T (p.Val254=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2947831	NM_000475.5(NR0B1):c.1168+7G>T	NR0B1	Single nucleotide variant (intron variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2947541	NM_000475.5(NR0B1):c.1245C>A (p.Thr415=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2947471	NM_000475.5(NR0B1):c.774C>T (p.Ala258=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2947126	NM_000475.5(NR0B1):c.126G>C (p.Ser42=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2947012	NM_000475.5(NR0B1):c.555G>A (p.Glu185=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2946967	NM_000475.5(NR0B1):c.414C>T (p.Asp138=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2946827	NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2946804	NM_000475.5(NR0B1):c.690G>C (p.Arg230=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2946534	NM_000475.5(NR0B1):c.18C>T (p.His6=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2946222	NM_000475.5(NR0B1):c.582G>T (p.Ala194=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2945923	NM_000475.5(NR0B1):c.324G>T (p.Ser108=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2945140	NM_000475.5(NR0B1):c.223C>A (p.Arg75=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2945039	NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr)	NR0B1 (C132Y)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GUncertain significance
Select item 2944703	NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2944316	NM_000475.5(NR0B1):c.276G>T (p.Ala92=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2944026	NM_000475.5(NR0B1):c.507C>A (p.Gly169=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2944009	NM_000475.5(NR0B1):c.318C>G (p.Gly106=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2943803	NM_000475.5(NR0B1):c.6G>C (p.Ala2=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2943719	NM_000475.5(NR0B1):c.171G>C (p.Gly57=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2943620	NM_000475.5(NR0B1):c.1062C>G (p.Ser354=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2943089	NM_000475.5(NR0B1):c.801C>T (p.Arg267=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2942849	NM_000475.5(NR0B1):c.144G>C (p.Gly48=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2942837	NM_000475.5(NR0B1):c.777A>G (p.Ser259=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2942692	NM_000475.5(NR0B1):c.360T>G (p.Leu120=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2942691	NM_000475.5(NR0B1):c.366T>C (p.Gly122=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2942663	NM_000475.5(NR0B1):c.1248G>A (p.Arg416=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2942447	NM_000475.5(NR0B1):c.969C>A (p.Thr323=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2942358	NM_000475.5(NR0B1):c.603T>C (p.Phe201=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2942274	NM_000475.5(NR0B1):c.654G>A (p.Thr218=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2941789	NM_000475.5(NR0B1):c.1169-8C>A	NR0B1	Single nucleotide variant (intron variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2941501	NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)	NR0B1 (C368*)	Single nucleotide variant (nonsense)	Congenital adrenal hypoplasia, X-linked +1 more	GPathogenic
Select item 2941449	NM_000475.5(NR0B1):c.1279A>G (p.Ile427Val)	NR0B1 (I427V)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2940941	NM_000475.5(NR0B1):c.804C>T (p.Phe268=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2940646	NM_000475.5(NR0B1):c.780G>A (p.Ala260=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2940606	NM_000475.5(NR0B1):c.162G>C (p.Leu54=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GBenign
Select item 2940500	NM_000475.5(NR0B1):c.480G>A (p.Pro160=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2940189	NM_000475.5(NR0B1):c.510G>A (p.Ala170=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2940031	NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)	NR0B1 (W171fs)	Microsatellite (frameshift variant)	Congenital adrenal hypoplasia, X-linked +1 more	GPathogenic
Select item 2940020	NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)	NR0B1 (L386R)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GUncertain significance
Select item 2939920	NM_000475.5(NR0B1):c.702C>T (p.Pro234=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2939863	NM_000475.5(NR0B1):c.276G>C (p.Ala92=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2939716	NM_000475.5(NR0B1):c.1398C>G (p.Leu466=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2939553	NM_000475.5(NR0B1):c.151A>C (p.Arg51=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2939243	NM_000475.5(NR0B1):c.33C>T (p.Ser11=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2939184	NM_000475.5(NR0B1):c.369G>A (p.Gly123=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2938992	NM_000475.5(NR0B1):c.30C>T (p.Gly10=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2938610	NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe)	NR0B1 (L149F)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GUncertain significance
Select item 2938164	NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg)	NR0B1 (P103R)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GUncertain significance
Select item 2937973	NM_000475.5(NR0B1):c.885C>T (p.Leu295=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2937727	NM_000475.5(NR0B1):c.654G>C (p.Thr218=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2937471	NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2937233	NM_000475.5(NR0B1):c.420G>A (p.Pro140=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2936777	NM_000475.5(NR0B1):c.353C>T (p.Ala118Val)	NR0B1 (A118V)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GBenign
Select item 2936703	NM_000475.5(NR0B1):c.525C>T (p.Ser175=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2936321	NM_000475.5(NR0B1):c.69G>A (p.Thr23=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2936138	NM_000475.5(NR0B1):c.912G>A (p.Leu304=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2935552	NM_000475.5(NR0B1):c.213A>G (p.Lys71=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2935250	NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val)	NR0B1 (I452V)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GUncertain significance
Select item 2935184	NM_000475.5(NR0B1):c.1020G>A (p.Gln340=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2934771	NM_000475.5(NR0B1):c.381A>G (p.Ala127=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2934769	NM_000475.5(NR0B1):c.405T>C (p.Cys135=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2934387	NM_000475.5(NR0B1):c.6G>A (p.Ala2=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2934022	NM_000475.5(NR0B1):c.1254G>A (p.Thr418=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2933754	NM_000475.5(NR0B1):c.162G>A (p.Leu54=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2933533	NM_000475.5(NR0B1):c.891T>C (p.Leu297=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2932387	NM_000475.5(NR0B1):c.375C>T (p.Pro125=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2932120	NM_000475.5(NR0B1):c.1245C>G (p.Thr415=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2931707	NM_000475.5(NR0B1):c.579G>A (p.Thr193=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2931428	NM_000475.5(NR0B1):c.936G>A (p.Ser312=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2931279	NM_000475.5(NR0B1):c.1281C>T (p.Ile427=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign
Select item 2930922	NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GBenign
Select item 2930657	NM_000475.5(NR0B1):c.654G>T (p.Thr218=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +1 more	GLikely benign

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