ClinVar for MedGen (Select 461449) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061050	NM_001395413.1(POR):c.1660+1G>A	POR	Single nucleotide variant (splice donor variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	GPathogenic
Select item 2570593	NM_001395413.1(POR):c.1390-34_1390-33delinsCT	POR	Indel (intron variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	GLikely benign
Select item 1679929	NM_001395413.1(POR):c.1477T>C (p.Trp493Arg)	POR (W496R +3 more)	Single nucleotide variant (missense variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	GLikely pathogenic
Select item 1472554	NM_001395413.1(POR):c.1465G>A (p.Val489Met)	POR (V439M +2 more)	Single nucleotide variant (missense variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +3 more	GUncertain significance
Select item 1465008	NM_001395413.1(POR):c.1640G>A (p.Arg547Gln)	POR (R497Q +2 more)	Single nucleotide variant (missense variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +1 more	GConflicting classifications of pathogenicity
Select item 1405328	NM_001395413.1(POR):c.723-2A>T	POR	Single nucleotide variant (splice acceptor variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +2 more	GPathogenic
Select item 1401323	NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)	POR (G433S +2 more)	Inversion (missense variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +2 more	GUncertain significance
Select item 1336625	NM_001395413.1(POR):c.1577C>T (p.Thr526Met)	POR (T476M +2 more)	Single nucleotide variant (missense variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +3 more	GUncertain significance
Select item 1324955	NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)	POR (Q556* +2 more)	Single nucleotide variant (nonsense)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +2 more	GPathogenic/Likely pathogenic
Select item 1293480	NM_001395413.1(POR):c.1390-34T>C	POR	Single nucleotide variant (intron variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +1 more	GBenign
Select item 1293474	NM_001395413.1(POR):c.1390-33G>T	POR	Single nucleotide variant (intron variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +1 more	GBenign
Select item 1254698	NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)	POR (Y554C +2 more)	Single nucleotide variant (missense variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +4 more	GLikely pathogenic
Select item 911635	NM_001395413.1(POR):c.1208G>A (p.Arg403His)	POR (R403H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 911569	NM_001395413.1(POR):c.560A>G (p.Tyr187Cys)	POR (Y187C +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 910469	NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)	POR (S519L +2 more)	Single nucleotide variant (missense variant)	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +4 more	GConflicting classifications of pathogenicity
Select item 910356	NM_001395413.1(POR):c.311G>A (p.Arg104His)	POR (R104H +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +2 more	GUncertain significance
Select item 691923	NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter)	POR (Y428* +2 more)	Single nucleotide variant (nonsense)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +1 more	GPathogenic
Select item 469120	NM_001395413.1(POR):c.205T>C (p.Phe69Leu)	POR (F69L +1 more)	Single nucleotide variant (missense variant)	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +2 more	GUncertain significance
Select item 360727	NM_001395413.1(POR):c.*147CTC[1]	POR	Microsatellite (3 prime UTR variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	GUncertain significance
Select item 360704	NM_001395413.1(POR):c.821+2dup	POR	Duplication (splice donor variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +1 more	GUncertain significance
Select item 360700	NM_001395413.1(POR):c.508-14_508-13del	POR	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 284175	NM_001395413.1(POR):c.1882G>A (p.Val628Ile)	POR (V578I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 256842	NM_001395413.1(POR):c.378A>G (p.Pro126=)	POR	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 256838	NM_001395413.1(POR):c.1239+12C>T	POR	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 138790	NM_001395413.1(POR):c.1446T>C (p.Ala482=)	POR	Single nucleotide variant (synonymous variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +4 more	GBenign
Select item 138789	NM_001395413.1(POR):c.1058-13C>G	POR	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +4 more	GBenign
Select item 16915	NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)	POR (G486R +2 more)	Single nucleotide variant (missense variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +2 more	GPathogenic
Select item 16914	NM_001395413.1(POR):c.559_571dup (p.Arg191fs)	POR (R191fs +1 more)	Duplication (frameshift variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	GPathogenic
Select item 16913	NM_001395413.1(POR):c.6A>G (p.Gly2=)	POR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 16912	NM_001395413.1(POR):c.1826_1849del (p.Leu609_Trp617delinsArg)	POR	Deletion (inframe_indel)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	GPathogenic
Select item 16911	NM_001395413.1(POR):c.1724A>G (p.Tyr575Cys)	POR (Y525C +2 more)	Single nucleotide variant (missense variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	GPathogenic
Select item 16910	NM_001395413.1(POR):c.1320dup (p.Ile441fs)	POR (I441fs +1 more)	Duplication (frameshift variant +1 more)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 16907	NM_001395413.1(POR):c.1361G>A (p.Arg454His)	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
Select item 16905	NM_001395413.1(POR):c.722+1G>A	POR	Single nucleotide variant (splice donor variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	GPathogenic
Select item 16902	NM_001395413.1(POR):c.850G>C (p.Ala284Pro)	LOC126860075, POR (A302P)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 16901	NM_001395413.1(POR):c.1466T>A (p.Val489Glu)	POR (V439E +2 more)	Single nucleotide variant (missense variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	GPathogenic

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Items: 36