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Links from MedGen

Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POR
Indel
(intron variant)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
GLikely benign
POR
(W496R +3 more)
Single nucleotide variant
(missense variant)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
GLikely pathogenic
POR
(V439M +2 more)
Single nucleotide variant
(missense variant)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
+3 more
GUncertain significance
POR
Single nucleotide variant
(splice acceptor variant)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
+2 more
GPathogenic
POR
(G433S +2 more)
Inversion
(missense variant)
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
+2 more
GUncertain significance
POR
(T476M +2 more)
Single nucleotide variant
(missense variant)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
+3 more
GUncertain significance
POR
(Q556* +2 more)
Single nucleotide variant
(nonsense)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
+2 more
GPathogenic/Likely pathogenic
POR
Single nucleotide variant
(intron variant)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
+1 more
GBenign
POR
Single nucleotide variant
(intron variant)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
+1 more
GBenign
POR
(Y554C +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GLikely pathogenic
POR
(R403H +1 more)
Single nucleotide variant
(missense variant)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
+3 more
GUncertain significance
POR
(S519L +2 more)
Single nucleotide variant
(missense variant)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
+4 more
GConflicting classifications of pathogenicity
POR
(R104H +1 more)
Single nucleotide variant
(missense variant)
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
+2 more
GUncertain significance
POR
(Y428* +2 more)
Single nucleotide variant
(nonsense)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
+1 more
GPathogenic
POR
(F69L +1 more)
Single nucleotide variant
(missense variant)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
+2 more
GUncertain significance
POR
Microsatellite
(3 prime UTR variant)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
GUncertain significance
POR
Duplication
(splice donor variant)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
+1 more
GUncertain significance
POR
Deletion
(intron variant)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
+3 more
GBenign/Likely benign
POR
(V578I +2 more)
Single nucleotide variant
(missense variant)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
+2 more
GConflicting classifications of pathogenicity
POR
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
POR
Single nucleotide variant
(intron variant)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
+4 more
GBenign
POR
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
POR
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
POR
(G486R +2 more)
Single nucleotide variant
(missense variant)
Congenital adrenal hyperplasia
+1 more
GPathogenic
POR
(R191fs +1 more)
Duplication
(frameshift variant)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
GPathogenic
POR
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
POR
Deletion
(inframe_indel)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
GPathogenic
POR
(Y525C +2 more)
Single nucleotide variant
(missense variant)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
GPathogenic
POR
(I441fs +1 more)
Duplication
(frameshift variant +1 more)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
+3 more
GPathogenic/Likely pathogenic
POR
(R454H +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
+3 more
GPathogenic/Likely pathogenic
POR
Single nucleotide variant
(splice donor variant)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
GPathogenic
LOC126860075, POR
(A302P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
POR
(V439E +2 more)
Single nucleotide variant
(missense variant)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
GPathogenic
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