POR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 57573	GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	CCL24, CCL26 +65 more	Copy number loss	See cases	GPathogenic
Select item 146678	GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3	CCL24, CCL26 +65 more	Copy number gain	See cases	GUncertain significance
Select item 147350	GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 58896	GRCh38/hg38 7q11.23(chr7:75769688-76066509)x1	CCL24, CCL26 +25 more	Copy number loss	See cases	GUncertain significance
Select item 360685	NM_000941.2(POR):c.-80A>C	LOC129998680, POR	Single nucleotide variant	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 360686	NM_000941.2(POR):c.-47A>C	LOC129998680, POR	Single nucleotide variant	not provided +1 more	GBenign
Select item 911510	NC_000007.14:g.75915138G>C	LOC129998680, POR	Single nucleotide variant	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 360687	NM_000941.2(POR):c.-33G>T	LOC129998680, POR	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 360690	NM_001395413.1(POR):c.-14G>T	LOC129998680, POR	Single nucleotide variant (5 prime UTR variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 360689	NM_001395413.1(POR):c.-14G>C	LOC129998680, POR	Single nucleotide variant (5 prime UTR variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 360688	NM_001395413.1(POR):c.-14G>A	LOC129998680, POR	Single nucleotide variant (5 prime UTR variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GUncertain significance
Select item 908539	NM_001395413.1(POR):c.-14+8C>G	LOC129998680, POR	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 908540	NM_001395413.1(POR):c.-14+9T>C	LOC129998680, POR	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	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 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 2038685	NM_001395413.1(POR):c.5G>C (p.Gly2Ala)	POR (G2A +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
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 2865965	NM_001395413.1(POR):c.15C>T (p.His5=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2163444	NM_001395413.1(POR):c.33C>T (p.Thr11=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 1400596	NM_001395413.1(POR):c.34G>A (p.Val12Met)	POR (V12M)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 1629869	NM_001395413.1(POR):c.36G>A (p.Val12=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2152446	NM_001395413.1(POR):c.39C>T (p.Ser13=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2715315	NM_001395413.1(POR):c.40G>T (p.Glu14Ter)	POR (E14* +1 more)	Single nucleotide variant (nonsense)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 1900170	NM_001395413.1(POR):c.44C>T (p.Ala15Val)	POR (A18V +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 779563	NM_001395413.1(POR):c.45G>A (p.Ala15=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2817100	NM_001395413.1(POR):c.51C>G (p.Ala17=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2414877	NM_001395413.1(POR):c.51C>T (p.Ala17=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2879705	NM_001395413.1(POR):c.60A>G (p.Val20=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 1920714	NM_001395413.1(POR):c.64_65del (p.Leu22fs)	POR (L22fs)	Microsatellite (frameshift variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 2435217	NM_001395413.1(POR):c.64C>T (p.Leu22Phe)	POR (L22F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2198202	NM_001395413.1(POR):c.77C>T (p.Thr26Met)	POR (T29M +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 360691	NM_001395413.1(POR):c.78G>A (p.Thr26=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1945340	NM_001395413.1(POR):c.87T>C (p.Ile29=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2779144	NM_001395413.1(POR):c.96G>A (p.Ser32=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
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 1636273	NM_001395413.1(POR):c.102C>T (p.Ile34=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 909405	NM_001395413.1(POR):c.103G>A (p.Val35Met)	POR (V35M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2784591	NM_001395413.1(POR):c.111C>T (p.Leu37=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2851692	NM_001395413.1(POR):c.115del (p.Thr39fs)	POR (T39fs)	Deletion (frameshift variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 994380	NM_001395413.1(POR):c.115A>G (p.Thr39Ala)	POR (T39A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136153	NM_001395413.1(POR):c.127C>T (p.Leu43Phe)	POR (L43F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439232	NM_001395413.1(POR):c.137A>G (p.Lys46Arg)	POR (K46R)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 2193699	NM_001395413.1(POR):c.138G>C (p.Lys46Asn)	POR (K49N +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	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 790736	NM_001395413.1(POR):c.143AAG[2] (p.Glu50del)	POR (E50del)	Microsatellite (inframe_deletion)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 360692	NM_001395413.1(POR):c.149A>T (p.Glu50Val)	POR (E50V)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 360693	NM_001395413.1(POR):c.150A>C (p.Glu50Asp)	POR (E50D)	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 1176229	NM_001395413.1(POR):c.156C>T (p.Pro52=)	POR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1429691	NM_001395413.1(POR):c.157G>A (p.Glu53Lys)	POR (E53K)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GUncertain significance
Select item 360694	NM_001395413.1(POR):c.160T>C (p.Phe54Leu)	POR (F54L)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 1331049	NM_001395413.1(POR):c.162C>G (p.Phe54Leu)	POR (F54L)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GUncertain significance
Select item 1522371	NM_001395413.1(POR):c.163A>G (p.Thr55Ala)	POR (T55A)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 576622	NM_001395413.1(POR):c.179+2T>C	POR	Single nucleotide variant (splice donor variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely pathogenic
Select item 2895016	NM_001395413.1(POR):c.179+9C>T	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2894889	NM_001395413.1(POR):c.179+10G>A	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2826993	NM_001395413.1(POR):c.179+15_179+16del	POR	Microsatellite (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2756016	NM_001395413.1(POR):c.179+14C>T	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2709382	NM_001395413.1(POR):c.179+14C>G	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2829372	NM_001395413.1(POR):c.179+16C>G	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 1268884	NM_001395413.1(POR):c.179+193C>G	POR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264678	NM_001395413.1(POR):c.179+273G>A	POR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2784354	NM_001395413.1(POR):c.180-18C>T	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2733795	NM_001395413.1(POR):c.180-15_180-14del	POR	Microsatellite (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 360695	NM_001395413.1(POR):c.180-10T>C	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2899939	NM_001395413.1(POR):c.180-8T>C	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2740126	NM_001395413.1(POR):c.180-5T>C	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 1412268	NM_001395413.1(POR):c.182C>T (p.Thr61Ile)	POR (T61I +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 2170799	NM_001395413.1(POR):c.186C>G (p.Ser62=)	POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 469120	NM_001395413.1(POR):c.205T>C (p.Phe69Leu)	POR (F69L +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +2 more	GUncertain significance
Select item 2040336	NM_001395413.1(POR):c.207T>G (p.Phe69Leu)	POR (F87L +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 909406	NM_001395413.1(POR):c.226A>G (p.Thr76Ala)	POR (T76A +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 2827957	NM_001395413.1(POR):c.228+14A>G	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2780582	NM_001395413.1(POR):c.228+20T>G	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2713221	NM_001395413.1(POR):c.228+20T>C	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 1264470	NM_001395413.1(POR):c.228+88G>A	POR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276192	NM_001395413.1(POR):c.229-95G>T	POR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2889718	NM_001395413.1(POR):c.229-19C>T	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2719181	NM_001395413.1(POR):c.229-19_229-18del	POR	Deletion (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2156481	NM_001395413.1(POR):c.229-19C>G	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2800977	NM_001395413.1(POR):c.229-15_229-14del	POR	Microsatellite (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2058380	NM_001395413.1(POR):c.229-17G>A	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2760332	NM_001395413.1(POR):c.229-16T>G	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2702934	NM_001395413.1(POR):c.229-15G>A	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2859974	NM_001395413.1(POR):c.229-13C>T	POR	Single nucleotide variant (intron 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 2902438	NM_001395413.1(POR):c.229-10C>T	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 772762	NM_001395413.1(POR):c.229-10C>A	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2062445	NM_001395413.1(POR):c.229-9C>G	POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 727781	NM_001395413.1(POR):c.229-9C>A	POR	Single nucleotide variant (intron variant)	not provided	GLikely benign

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