LOC126860075[gene] - ClinVar

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Items: 97

	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 1187121	NM_001395413.1(POR):c.822-310G>A	LOC126860075, POR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269338	NM_001395413.1(POR):c.822-168del	LOC126860075, POR	Deletion (intron variant)	not provided	GBenign
Select item 1238959	NM_001395413.1(POR):c.822-68C>G	LOC126860075, POR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232692	NM_001395413.1(POR):c.822-55G>A	LOC126860075, POR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 978019	NM_001395413.1(POR):c.822-35C>T	LOC126860075, POR	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GBenign/Likely benign
Select item 1674188	NM_001395413.1(POR):c.822-18T>G	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 1254562	NM_001395413.1(POR):c.822-11_822-9del	LOC126860075, POR	Microsatellite (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GLikely benign
Select item 2707870	NM_001395413.1(POR):c.822-11T>C	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
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 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 1603253	NM_001395413.1(POR):c.825C>T (p.Pro275=)	LOC126860075, 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 2755279	NM_001395413.1(POR):c.834C>T (p.Ala278=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2827998	NM_001395413.1(POR):c.837G>A (p.Lys279=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 1412658	NM_001395413.1(POR):c.841C>A (p.Pro281Thr)	LOC126860075, POR (P281T +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GUncertain significance
Select item 2632080	NM_001395413.1(POR):c.842C>T (p.Pro281Leu)	LOC126860075, POR (P281L +2 more)	Single nucleotide variant (missense variant)	POR-related disorder	GUncertain significance
Select item 2039228	NM_001395413.1(POR):c.843G>A (p.Pro281=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
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 2156027	NM_001395413.1(POR):c.855A>G (p.Ala285=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
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 707244	NM_001395413.1(POR):c.861C>T (p.Thr287=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GBenign
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 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 360706	NM_001395413.1(POR):c.888C>T (p.Thr296=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GConflicting classifications of pathogenicity
Select item 909475	NM_001395413.1(POR):c.889G>A (p.Glu297Lys)	LOC126860075, POR (E297K +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1722264	NM_001395413.1(POR):c.891G>C (p.Glu297Asp)	LOC126860075, POR (E297D +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 1382908	NM_001395413.1(POR):c.892C>T (p.Arg298Cys)	LOC126860075, POR (R298C +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 1412990	NM_001395413.1(POR):c.893G>A (p.Arg298His)	LOC126860075, POR (R298H +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 1199771	NM_001395413.1(POR):c.898C>T (p.Leu300Phe)	LOC126860075, POR (L300F +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GUncertain significance
Select item 2728349	NM_001395413.1(POR):c.913T>C (p.Leu305=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	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 753999	NM_001395413.1(POR):c.924G>C (p.Ser308=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2805556	NM_001395413.1(POR):c.930C>T (p.Ser310=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2883805	NM_001395413.1(POR):c.936C>T (p.Ile312=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 909476	NM_001395413.1(POR):c.938G>C (p.Arg313Thr)	LOC126860075, POR (R313T +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 360707	NM_001395413.1(POR):c.938+3A>G	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
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 909477	NM_001395413.1(POR):c.938+10G>A	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GConflicting classifications of pathogenicity
Select item 2845047	NM_001395413.1(POR):c.938+13A>G	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2782020	NM_001395413.1(POR):c.938+16G>A	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2908141	NM_001395413.1(POR):c.938+18C>T	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2828686	NM_001395413.1(POR):c.938+22_938+24dup	LOC126860075, POR	Duplication (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2852307	NM_001395413.1(POR):c.938+23_938+24del	LOC126860075, POR	Deletion (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2815065	NM_001395413.1(POR):c.939-21_939-17del	LOC126860075, POR	Deletion (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2904366	NM_001395413.1(POR):c.939-20A>G	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 360708	NM_001395413.1(POR):c.939-14A>C	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 2794728	NM_001395413.1(POR):c.939-6C>T	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2754498	NM_001395413.1(POR):c.939-6C>A	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2657619	NM_001395413.1(POR):c.948T>C (p.Ser316=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706311	NM_001395413.1(POR):c.955dup (p.His319fs)	LOC126860075, POR (H337fs +1 more)	Duplication (frameshift variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 2174499	NM_001395413.1(POR):c.955C>T (p.His319Tyr)	LOC126860075, POR (H322Y +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 2742473	NM_001395413.1(POR):c.957C>T (p.His319=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 1199396	NM_001395413.1(POR):c.967T>C (p.Tyr323His)	LOC126860075, POR (Y326H +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GUncertain significance
Select item 618843	NM_001395413.1(POR):c.975C>T (p.Ala325=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2785905	NM_001395413.1(POR):c.981_988dup (p.Leu330fs)	LOC126860075, POR (L348fs +1 more)	Duplication (frameshift variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
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 1450872	NM_001395413.1(POR):c.985G>A (p.Ala329Thr)	LOC126860075, POR (A329T +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +1 more	GUncertain significance
Select item 741136	NM_001395413.1(POR):c.990C>T (p.Leu330=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GConflicting classifications of pathogenicity
Select item 910411	NM_001395413.1(POR):c.991G>A (p.Val331Ile)	LOC126860075, POR (V331I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2864060	NM_001395413.1(POR):c.993C>G (p.Val331=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2748651	NM_001395413.1(POR):c.1000C>T (p.Leu334=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2777822	NM_001395413.1(POR):c.1020del (p.Asp341fs)	LOC126860075, POR (D359fs +1 more)	Deletion (frameshift variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 1591218	NM_001395413.1(POR):c.1020C>T (p.Ala340=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 1960400	NM_001395413.1(POR):c.1023C>T (p.Asp341=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 591356	NM_001395413.1(POR):c.1027G>T (p.Asp343Tyr)	LOC126860075, POR (D343Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554241	NM_001395413.1(POR):c.1029C>T (p.Asp343=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2778320	NM_001395413.1(POR):c.1032C>T (p.Val344=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 1411407	NM_001395413.1(POR):c.1033del (p.Val345fs)	LOC126860075, POR (V345fs +1 more)	Deletion (frameshift variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 910412	NM_001395413.1(POR):c.1033G>A (p.Val345Ile)	LOC126860075, POR (V345I +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 2730681	NM_001395413.1(POR):c.1044del (p.Asn349fs)	LOC126860075, POR (N349fs +1 more)	Deletion (frameshift variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GPathogenic
Select item 728750	NM_001395413.1(POR):c.1044G>A (p.Leu348=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GBenign
Select item 2056773	NM_001395413.1(POR):c.1048A>C (p.Asn350His)	LOC126860075, POR (N350H +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
Select item 2821234	NM_001395413.1(POR):c.1051C>T (p.Leu351=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2196879	NM_001395413.1(POR):c.1053G>A (p.Leu351=)	LOC126860075, POR	Single nucleotide variant (synonymous variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 1380385	NM_001395413.1(POR):c.1057+3G>A	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GUncertain significance
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 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 1459444	NM_001395413.1(POR):c.1057+11C>T	LOC126860075, 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 2895098	NM_001395413.1(POR):c.1057+17G>A	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 2762855	NM_001395413.1(POR):c.1057+18G>A	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 1512421	NM_001395413.1(POR):c.1057+20C>T	LOC126860075, POR	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	GLikely benign
Select item 1179238	NM_001395413.1(POR):c.1057+101G>A	LOC126860075, POR	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 97