ClinVar for Gene (Select 5447) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 863

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383062	NM_001395413.1(POR):c.1315C>T (p.Pro439Ser)	POR (P439S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 3364844	NM_001395413.1(POR):c.1852A>G (p.Lys618Glu)	POR (K568E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352981	NM_001395413.1(POR):c.-14+10A>G	LOC129998680, POR	Single nucleotide variant (5 prime UTR variant +1 more)	POR-related disorder	GLikely benign
Select item 3343574	NM_001395413.1(POR):c.1420G>T (p.Val474Leu)	POR (V424L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339945	NM_001395413.1(POR):c.1685T>C (p.Leu562Pro)	POR (L512P +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 3308928	NM_001395413.1(POR):c.102C>G (p.Ile34Met)	POR (I34M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3308927	NM_001395413.1(POR):c.869G>A (p.Arg290Gln)	LOC126860075, POR (R308Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251474	NM_001395413.1(POR):c.1361G>T (p.Arg454Leu)	POR (R454L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3251471	NM_001395413.1(POR):c.1729G>C (p.Glu577Gln)	POR (E527Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3245784	NC_000007.13:g.(?_75611598)_(75614037_?)del	POR	Deletion	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 3245783	NC_000007.13:g.(?_75611522)_(75613194_?)del	POR	Deletion	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 3245782	NC_000007.13:g.(?_75610346)_(75610944_?)del	POR	Deletion	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 3245781	NC_000007.13:g.(?_75608749)_(75610510_?)del	POR	Deletion	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 3245780	NC_000007.13:g.(?_75601711)_(75615799_?)del	POR	Deletion	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 3245779	NC_000007.13:g.(?_75601711)_(75601799_?)del	POR	Deletion	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 3245778	NC_000007.13:g.(?_75583311)_(75583518_?)del	POR	Deletion	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 3216811	NM_001395413.1(POR):c.785A>C (p.Glu262Ala)	POR (E262A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216810	NM_001395413.1(POR):c.689A>C (p.His230Pro)	POR (H233P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216809	NM_001395413.1(POR):c.1945G>C (p.Glu649Gln)	POR (E652Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216808	NM_001395413.1(POR):c.1777G>A (p.Val593Met)	POR (V593M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216807	NM_001395413.1(POR):c.139A>G (p.Lys47Glu)	POR (K47E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216806	NM_001395413.1(POR):c.1318C>G (p.Pro440Ala)	POR (P458A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068964	NM_001395413.1(POR):c.335del (p.Ala112fs)	POR (A112fs +1 more)	Deletion (frameshift variant)	Congenital adrenal hyperplasia	GPathogenic
Select item 3064896	NM_001395413.1(POR):c.1184A>C (p.Glu395Ala)	POR (E395A +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
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 3052208	NM_001395413.1(POR):c.-14+11T>C	LOC129998680, POR	Single nucleotide variant (5 prime UTR variant +1 more)	POR-related disorder	GLikely benign
Select item 3036544	NM_001395413.1(POR):c.458A>G (p.Tyr153Cys)	POR (Y153C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3022306	NM_001395413.1(POR):c.1172del (p.Gln391fs)	POR (Q391fs +1 more)	Deletion (frameshift variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 3022197	NM_001395413.1(POR):c.1389+1G>A	POR	Single nucleotide variant (intron variant +1 more)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely pathogenic
Select item 3017768	NM_001395413.1(POR):c.1661-13C>T	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3017571	NM_001395413.1(POR):c.246G>T (p.Val82=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3017093	NM_001395413.1(POR):c.229-11G>A	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3016085	NM_001395413.1(POR):c.1086G>C (p.Pro362=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3015927	NM_001395413.1(POR):c.1680G>A (p.Thr560=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3015682	NM_001395413.1(POR):c.1390-4A>C	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3014624	NM_001395413.1(POR):c.1660+16T>C	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3013999	NM_001395413.1(POR):c.1512C>G (p.Gly504=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3013824	NM_001395413.1(POR):c.1395C>T (p.His465=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3013586	NM_001395413.1(POR):c.1593G>T (p.Val531=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3011112	NM_001395413.1(POR):c.1446T>A (p.Ala482=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3008379	NM_001395413.1(POR):c.821+2_821+3del	POR	Deletion (splice donor variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely pathogenic
Select item 3007392	NM_001395413.1(POR):c.508-19G>A	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3006339	NM_001395413.1(POR):c.357+18G>C	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3005429	NM_001395413.1(POR):c.1057+11_1057+12del	LOC126860075, POR	Microsatellite (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3004272	NM_001395413.1(POR):c.984T>C (p.Ser328=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3003509	NM_001395413.1(POR):c.1661-7C>A	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3000703	NM_001395413.1(POR):c.1660+17G>C	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 3000454	NM_001395413.1(POR):c.1239+17C>T	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2998671	NM_001395413.1(POR):c.822-4C>G	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2998092	NM_001395413.1(POR):c.508-13T>C	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2996207	NM_001395413.1(POR):c.252C>T (p.Tyr84=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2994738	NM_001395413.1(POR):c.1689C>T (p.Tyr563=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2994648	NM_001395413.1(POR):c.1806+10G>T	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2993887	NM_001395413.1(POR):c.408C>T (p.Cys136=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2992936	NM_001395413.1(POR):c.1953G>A (p.Gly651=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2990679	NM_001395413.1(POR):c.821+17T>C	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2989919	NM_001395413.1(POR):c.1690_1691dup (p.Gly565fs)	POR (G515fs +2 more)	Duplication (frameshift variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 2989055	NM_001395413.1(POR):c.453C>T (p.Asp151=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2986741	NM_001395413.1(POR):c.1660+16T>G	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2985769	NM_001395413.1(POR):c.723-7T>G	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2985738	NM_001395413.1(POR):c.1057+12A>C	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2983106	NM_001395413.1(POR):c.874C>T (p.Leu292=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2982147	NM_001395413.1(POR):c.1807-15C>T	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2982004	NM_001395413.1(POR):c.938+7G>A	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2981665	NM_001395413.1(POR):c.1057+11C>G	POR, LOC126860075	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2980772	NM_001395413.1(POR):c.1530C>T (p.Pro510=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2979438	NM_001395413.1(POR):c.1896A>T (p.Ala632=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2979099	NM_001395413.1(POR):c.1890-8C>T	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2976800	NM_001395413.1(POR):c.1807-2A>C	POR	Single nucleotide variant (splice acceptor variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely pathogenic
Select item 2976588	NM_001395413.1(POR):c.858C>A (p.Val286=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2975237	NM_001395413.1(POR):c.2010C>A (p.Arg670=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2974306	NM_001395413.1(POR):c.1815C>G (p.Val605=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2972070	NM_001395413.1(POR):c.828del (p.Phe276fs)	LOC126860075, POR (F276fs +1 more)	Deletion (frameshift variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 2970257	NM_001395413.1(POR):c.822-5C>T	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2968875	NM_001395413.1(POR):c.1935C>T (p.Asp645=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2965162	NM_001395413.1(POR):c.1245G>T (p.Leu415=)	POR	Single nucleotide variant (synonymous variant +1 more)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2964651	NM_001395413.1(POR):c.924G>A (p.Ser308=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2963977	NM_001395413.1(POR):c.1660+12C>A	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2963973	NM_001395413.1(POR):c.229-8T>C	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2962812	NM_001395413.1(POR):c.272C>T (p.Ala91Val)	POR (A91V +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 2962104	NM_001395413.1(POR):c.153C>T (p.Val51=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2961487	NM_001395413.1(POR):c.1785C>T (p.Phe595=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2960291	NM_001395413.1(POR):c.2025G>A (p.Val675=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2957712	NM_001395413.1(POR):c.651C>T (p.Ile217=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2957017	NM_001395413.1(POR):c.498C>T (p.Val166=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2955073	NM_001395413.1(POR):c.1140G>A (p.Pro380=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2920391	NM_001395413.1(POR):c.291C>A (p.Arg97=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2919578	NM_001395413.1(POR):c.722+10T>C	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2919493	NM_001395413.1(POR):c.735C>G (p.Tyr245Ter)	POR (Y245* +2 more)	Single nucleotide variant (nonsense)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 2919028	NM_001395413.1(POR):c.1890-11T>A	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2918860	NM_001395413.1(POR):c.621C>T (p.Asp207=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2918610	NM_001395413.1(POR):c.612G>A (p.Gly204=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2918493	NM_001395413.1(POR):c.519T>C (p.Leu173=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2918429	NM_001395413.1(POR):c.1470C>G (p.Ala490=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2918382	NM_001395413.1(POR):c.1890-12_1890-11del	POR	Microsatellite (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2918280	NM_001395413.1(POR):c.1323C>T (p.Ile441=)	POR	Single nucleotide variant (synonymous variant +1 more)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2917471	NM_001395413.1(POR):c.1434C>G (p.Tyr478Ter)	POR (Y496* +3 more)	Single nucleotide variant (nonsense)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 2916563	NM_001395413.1(POR):c.1428G>C (p.Val476=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2915409	NM_001395413.1(POR):c.1890-17C>A	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign

<< First< Prev

Page of 9