ClinVar for MedGen (Select 7900) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375305	NC_000006.11:g.(?_32006208)_(32007983_32008182)del	CYP21A2	Deletion	Congenital adrenal hyperplasia	GPathogenic
Select item 3375282	NC_000006.11:g.(?_32006191)_(32007983_32008182)del	CYP21A2	Deletion	Congenital adrenal hyperplasia	GPathogenic
Select item 3374834	NC_000006.11:g.(?_32006191)_(32007026_32007132)del	CYP21A2	Deletion	Congenital adrenal hyperplasia	GPathogenic
Select item 3366500	NC_000006.11:g.(32007026_32007132)_(32007235_32007322)del	CYP21A2	Deletion	Congenital adrenal hyperplasia	GPathogenic
Select item 3366402	NC_000006.11:g.(32006589_32006870)_(32007983_32008182)dup	CYP21A2	Duplication	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 3366383	NC_000006.11:g.(32006589_32006870)_(32007026_32007132)dup	CYP21A2	Duplication	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 3366374	NM_000497.4(CYP11B1):c.950A>T (p.Asp317Val)	CYP11B1, LOC106799833 (D317V)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 3339945	NM_001395413.1(POR):c.1685T>C (p.Leu562Pro)	POR (L512P +2 more)	Single nucleotide variant (missense variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +2 more	GLikely pathogenic
Select item 3339653	NM_000500.9(CYP21A2):c.449G>C (p.Arg150Pro)	CYP21A2, LOC106780800 (R120P +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 3336482	NM_000198.4(HSD3B2):c.320T>A (p.Leu107Gln)	HSD3B2 (L107Q)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 3251891	NM_000497.4(CYP11B1):c.1111G>A (p.Glu371Lys)	CYP11B1, LOC106799833 (E371K)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GLikely pathogenic
Select item 3251818	NM_000102.4(CYP17A1):c.1063G>A (p.Ala355Thr)	CYP17A1 (A355T)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 3235268	NM_000102.4(CYP17A1):c.1169C>G (p.Thr390Arg)	CYP17A1	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GPathogenic
Select item 3068964	NM_001395413.1(POR):c.335del (p.Ala112fs)	POR (A112fs +1 more)	Deletion (frameshift variant)	Congenital adrenal hyperplasia	GPathogenic
Select item 3068887	NC_000006.11:g.(32007425_32007525)_(32007613_32007781)del	CYP21A2	Deletion	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 3068886	NC_000006.11:g.(?_32006191)_(32006402_32006498)del	CYP21A2	Deletion	Congenital adrenal hyperplasia	GPathogenic
Select item 3032291	NM_000500.9(CYP21A2):c.233T>C (p.Ile78Thr)	CYP21A2, LOC106780800 (I78T)	Single nucleotide variant (missense variant +2 more)	Congenital adrenal hyperplasia	GPathogenic
Select item 2681119	NM_000102.4(CYP17A1):c.1318C>T (p.Arg440Cys)	CYP17A1 (R440C)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +2 more	GPathogenic
Select item 2681112	NM_000102.4(CYP17A1):c.973AAG[2] (p.Lys327del)	CYP17A1 (K327del)	Microsatellite	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 2681093	NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=)	CYP17A1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 17-alpha-monooxygenase +2 more	GPathogenic/Likely pathogenic
Select item 2627163	NM_000500.9(CYP21A2):c.1298C>T (p.Pro433Leu)	CYP21A2, LOC106780800 (P298L +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 2581368	NM_000497.4(CYP11B1):c.199del (p.Glu67fs)	CYP11B1 (E67fs)	Deletion (frameshift variant)	Congenital adrenal hyperplasia	GPathogenic
Select item 2577239	NM_000198.4(HSD3B2):c.733G>C (p.Ala245Pro)	HSD3B2 (A245P)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GPathogenic
Select item 2573363	NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)	CYP17A1 (I371T)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GConflicting classifications of pathogenicity
Select item 2503932	NC_000006.11:g.(32007026_32007132)_(32007983_32008182)del	CYP21A2	Deletion	Congenital adrenal hyperplasia	GPathogenic
Select item 2503931	NM_000500.9(CYP21A2):c.1064G>A (p.Arg355His)	CYP21A2, LOC106780800 (R220H +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 2503930	NM_000497.4(CYP11B1):c.595+1G>C	CYP11B1, LOC106799833	Single nucleotide variant (splice donor variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 2445943	NM_001395413.1(POR):c.784G>T (p.Glu262Ter)	POR (E262* +2 more)	Single nucleotide variant (nonsense)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 2445874	NM_000497.4(CYP11B1):c.396-2A>G	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 1723345	NM_000500.9(CYP21A2):c.[710T>A;713T>A]	CYP21A2, LOC106780800 (V238E +5 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GPathogenic
Select item 1723344	NM_000500.9(CYP21A2):c.[713T>A;719T>A]	CYP21A2, LOC106780800 (V238E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1723343	NM_000500.9(CYP21A2):c.[710T>A;719T>A]	CYP21A2, LOC106780800 (M240K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1723238	NM_001395413.1(POR):c.821+1G>A	POR	Single nucleotide variant (splice donor variant)	Congenital adrenal hyperplasia +2 more	GPathogenic/Likely pathogenic
Select item 1722338	NM_000198.4(HSD3B2):c.849del (p.Arg282_Trp283insTer)	HSD3B2	Deletion (nonsense)	Congenital adrenal hyperplasia +1 more	GPathogenic/Likely pathogenic
Select item 1722337	NM_000198.4(HSD3B2):c.665C>A (p.Pro222Gln)	HSD3B2 (P222Q)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +1 more	GPathogenic
Select item 1705245	NM_000198.4(HSD3B2):c.376G>T (p.Glu126Ter)	HSD3B2 (E126*)	Single nucleotide variant (nonsense)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 1704503	NM_000497.4(CYP11B1):c.596-2A>G	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 1683257	NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)	CYP11B1, LOC106799833 (R454fs)	Duplication (frameshift variant +1 more)	Deficiency of steroid 11-beta-monooxygenase +2 more	GPathogenic/Likely pathogenic
Select item 1677197	NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile)	CYP17A1 (M1I)	Single nucleotide variant (missense variant +1 more)	Deficiency of steroid 17-alpha-monooxygenase +2 more	GLikely pathogenic
Select item 1677065	NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)	CYP17A1	Duplication (inframe_insertion)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GLikely pathogenic
Select item 1675320	NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys)	CYP21A2, LOC106780800 (R232C +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +2 more	GConflicting classifications of pathogenicity
Select item 1478370	NM_000102.4(CYP17A1):c.667-13_667-10del	CYP17A1, CYP17A1-AS1	Deletion (intron variant)	Congenital adrenal hyperplasia +2 more	GLikely pathogenic
Select item 1458049	NM_000497.4(CYP11B1):c.348G>C (p.Trp116Cys)	CYP11B1 (W116C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1454425	NM_001395413.1(POR):c.1837C>T (p.Arg613Ter)	POR (R563* +2 more)	Single nucleotide variant (nonsense)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1379019	NM_001395413.1(POR):c.1676_1679dup (p.Leu561fs)	POR (L511fs +2 more)	Duplication (frameshift variant)	Congenital adrenal hyperplasia +1 more	GPathogenic
Select item 1338524	NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His)	CYP17A1 (R440H)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +2 more	GPathogenic
Select item 1254698	NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)	POR (Y554C +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +3 more	GLikely pathogenic
Select item 1073771	NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter)	CYP11B1, LOC106799833 (R141*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase +2 more	GPathogenic
Select item 1072465	NM_000497.4(CYP11B1):c.726del (p.Ser243fs)	LOC106799833, CYP11B1 (S243fs)	Deletion (frameshift variant)	Congenital adrenal hyperplasia +3 more	GPathogenic/Likely pathogenic
Select item 1066592	NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu)	CYP17A1 (P409L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1065950	NM_000102.4(CYP17A1):c.1117C>T (p.His373Tyr)	CYP17A1 (H373Y)	Single nucleotide variant (missense variant)	Deficiency of steroid 17-alpha-monooxygenase +2 more	GPathogenic/Likely pathogenic
Select item 987867	NM_000500.9(CYP21A2):c.-113G>A	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	Congenital adrenal hyperplasia +2 more	GPathogenic/Likely pathogenic
Select item 971607	NM_000198.4(HSD3B2):c.385G>A (p.Gly129Arg)	HSD3B2 (G129R)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +2 more	GConflicting classifications of pathogenicity
Select item 944811	NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)	HSD3B2 (L173R)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GPathogenic
Select item 937691	NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)	HSD3B2 (Q311*)	Single nucleotide variant (nonsense)	Congenital adrenal hyperplasia +2 more	GPathogenic/Likely pathogenic
Select item 857403	NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln)	LOC106799833, CYP11B1 (R453Q)	Single nucleotide variant (missense variant +1 more)	Deficiency of steroid 11-beta-monooxygenase +3 more	GPathogenic
Select item 804731	NM_000497.4(CYP11B1):c.476C>T (p.Pro159Leu)	CYP11B1, LOC106799833 (P159L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 586031	NM_000198.4(HSD3B2):c.818_819del (p.Lys273fs)	HSD3B2 (K273fs)	Deletion (frameshift variant)	Congenital adrenal hyperplasia +2 more	GPathogenic
Select item 585760	NM_000497.4(CYP11B1):c.1398+5G>C	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia +2 more	GPathogenic
Select item 557468	NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg)	CYP11B1, LOC106799833 (L382R)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GConflicting classifications of pathogenicity
Select item 556405	NM_000497.4(CYP11B1):c.1361G>A (p.Arg454His)	CYP11B1, LOC106799833 (R454H)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 553163	NM_000497.4(CYP11B1):c.187G>C (p.Asp63His)	CYP11B1 (D63H)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +1 more	GConflicting classifications of pathogenicity
Select item 552484	NM_000497.4(CYP11B1):c.595+1G>A	CYP11B1, LOC106799833	Single nucleotide variant (splice donor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 550599	NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)	CYP11B1 (F79I)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +1 more	GConflicting classifications of pathogenicity
Select item 517183	NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter)	HSD3B2 (W355*)	Single nucleotide variant (nonsense)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 447228	NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GPathogenic/Likely pathogenic
Select item 427842	NM_000500.7(CYP21A2):c.[377C>G];[518T>A]			Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 427840	NM_000500.7(CYP21A2):c.[518T>A];[830_841delTCCTGGAAGGGC]			Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 362833	NM_000349.3(STAR):c.*948del	STAR	Deletion (3 prime UTR variant)	Congenital adrenal hyperplasia	GUncertain significance
Select item 362832	NM_000349.3(STAR):c.*967del	STAR	Deletion (3 prime UTR variant)	Congenital adrenal hyperplasia	GBenign
Select item 362831	NM_000349.3(STAR):c.965_967dup	STAR	Duplication (3 prime UTR variant)	Congenital adrenal hyperplasia	GUncertain significance
Select item 362827	NM_000349.3(STAR):c.*1384del	STAR	Deletion (3 prime UTR variant)	Congenital adrenal hyperplasia	GUncertain significance
Select item 362128	NM_000497.4(CYP11B1):c.*737C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Congenital adrenal hyperplasia +1 more	GUncertain significance
Select item 362119	NM_000497.4(CYP11B1):c.*1138del	CYP11B1	Deletion (3 prime UTR variant)	Congenital adrenal hyperplasia +1 more	GLikely benign
Select item 362109	NM_000497.4(CYP11B1):c.*1555del	CYP11B1	Deletion (3 prime UTR variant)	Congenital adrenal hyperplasia +1 more	GLikely benign
Select item 298631	NM_000102.3(CYP17A1):c.-166G>C	CYP17A1, LOC110408762	Single nucleotide variant	Congenital adrenal hyperplasia	GUncertain significance
Select item 298629	NM_000102.4(CYP17A1):c.-30dup	CYP17A1, LOC110408762	Duplication (5 prime UTR variant)	Congenital adrenal hyperplasia	GUncertain significance
Select item 298626	NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys)	CYP17A1 (R21K)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +1 more	GConflicting classifications of pathogenicity
Select item 298615	NM_000102.4(CYP17A1):c.*165dup	CYP17A1	Duplication (3 prime UTR variant)	Congenital adrenal hyperplasia	GUncertain significance
Select item 292268	NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp)	HSD3B2 (R362W)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GUncertain significance
Select item 292254	NM_000198.3(HSD3B2):c.-145G>A	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia +1 more	GConflicting classifications of pathogenicity
Select item 242761	NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)	CYP21A2, LOC106780800 (I237N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 65613	NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A]	CYP21A2, LOC106780800 (V238E +5 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 35996	NM_000500.9(CYP21A2):c.738+12_738+13inv	CYP21A2, LOC106780800	Inversion (intron variant)	Congenital adrenal hyperplasia	GUncertain significance
Select item 35995	NM_000500.9(CYP21A2):c.342C>T (p.Ser114=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 35994	NM_000500.9(CYP21A2):c.327C>G (p.Ser109=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	Congenital adrenal hyperplasia +2 more	GConflicting classifications of pathogenicity
Select item 35993	NM_000500.9(CYP21A2):c.293-7C>G	CYP21A2, LOC106780800	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital adrenal hyperplasia +1 more	GConflicting classifications of pathogenicity
Select item 35992	NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia +1 more	GLikely benign
Select item 35991	NM_000497.4(CYP11B1):c.799+5G>C	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +3 more	GConflicting classifications of pathogenicity
Select item 35990	NM_000497.4(CYP11B1):c.799+2T>C	LOC106799833, CYP11B1	Single nucleotide variant (splice donor variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 35988	NM_000497.4(CYP11B1):c.264G>A (p.Met88Ile)	CYP11B1 (M88I)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 35987	NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=)	CYP11B1	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 35986	NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)	CYP11B1 (P42L)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +3 more	GLikely pathogenic
Select item 35985	NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 35984	NM_000497.4(CYP11B1):c.1122-20A>G	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +3 more	GConflicting classifications of pathogenicity
Select item 35983	NM_000497.4(CYP11B1):c.1122-12C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 35982	NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)	CYP11B1, LOC106799833 (R374W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 35980	NM_000497.4(CYP11B1):c.1016C>T (p.Ala339Val)	CYP11B1, LOC106799833 (A339V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 35979	NM_000497.4(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile)	CYP11B1, LOC106799833 (A339I)	Indel (missense variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GUncertain significance
Select item 35978	NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr)	CYP11B1, LOC106799833 (A339T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance

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