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Links from MedGen

Items: 1 to 100 of 235

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NR0B1
Duplication
Congenital adrenal hypoplasia, X-linked
+1 more
GPathogenic
NR0B1
(P188L)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+2 more
GUncertain significance
NR0B1
(G77R)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GUncertain significance
NR0B1
Single nucleotide variant
(intron variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
(G123R)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Deletion
(nonsense)
Congenital adrenal hypoplasia, X-linked
+1 more
GPathogenic
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
(T384I)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
(A170P)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
(P94Q)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(intron variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
(C132Y)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GUncertain significance
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(intron variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
(C368*)
Single nucleotide variant
(nonsense)
Congenital adrenal hypoplasia, X-linked
+1 more
GPathogenic
NR0B1
(I427V)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GBenign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
(W171fs)
Microsatellite
(frameshift variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GPathogenic
NR0B1
(L386R)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GUncertain significance
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
(L149F)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GUncertain significance
NR0B1
(P103R)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GUncertain significance
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
(A118V)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GBenign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
(I452V)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GUncertain significance
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GBenign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
(A242V)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GBenign
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