ClinVar for MedGen (Select 461449) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +3 more	GUncertain significance
Select item 1405328	NM_001395413.1(POR):c.723-2A>T	POR	Single nucleotide variant (splice acceptor variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +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 without genital anomalies or 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)	not provided +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)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +3 more	GUncertain significance
Select item 910469	NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)	POR (S519L +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +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)	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +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 with genital anomalies and 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)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +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)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +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)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +4 more	GBenign
Select item 138790	NM_001395413.1(POR):c.1446T>C (p.Ala482=)	POR	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 138789	NM_001395413.1(POR):c.1058-13C>G	POR	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 16915	NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)	POR (G486R +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +1 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)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +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)	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 33