2592[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 737

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 146735	GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	ADGRB1, ARC +140 more	Copy number loss	See cases	GPathogenic
Select item 647962	NC_000008.11:g.(?_142875702)_(142912895_?)del	LOC110673972, CYP11B2 +3 more	Deletion	not provided	GPathogenic
Select item 1182	NC_000008.11:g.(142876396_142876681)_(142914419_142914704)del	CYP11B1, CYP11B2 +3 more	Deletion	Deficiency of steroid 11-beta-monooxygenase	GPathogenic
Select item 1172	NC_000008.11:g.(142876886_142877022)_(142914909_142915045)dup	CYP11B1, CYP11B2 +3 more	Duplication	Glucocorticoid-remediable aldosteronism	GPathogenic
Select item 908353	NM_000498.3(CYP11B2):c.*1340T>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908354	NM_000498.3(CYP11B2):c.*1277G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362172	NM_000498.3(CYP11B2):c.1246_1248del	CYP11B2, LOC106799834	Deletion (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GLikely benign
Select item 362173	NM_000498.3(CYP11B2):c.*1178T>C	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +3 more	GBenign
Select item 362174	NM_000498.3(CYP11B2):c.*1047C>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911201	NM_000498.3(CYP11B2):c.*993A>G	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362175	NM_000498.3(CYP11B2):c.*972C>G	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911396	NM_000498.3(CYP11B2):c.*879G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911397	NM_000498.3(CYP11B2):c.*876C>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362176	NM_000498.3(CYP11B2):c.*789G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908421	NM_000498.3(CYP11B2):c.*759A>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362177	NM_000498.3(CYP11B2):c.*746G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362178	NM_000498.3(CYP11B2):c.*744G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +3 more	GBenign
Select item 362179	NM_000498.3(CYP11B2):c.*743C>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362180	NM_000498.3(CYP11B2):c.*735G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GBenign
Select item 911265	NM_000498.3(CYP11B2):c.*613C>T	LOC106799834, CYP11B2	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911266	NM_000498.3(CYP11B2):c.*591T>G	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362181	NM_000498.3(CYP11B2):c.*579T>C	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 362182	NM_000498.3(CYP11B2):c.*566C>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 362183	NM_000498.3(CYP11B2):c.*537C>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 362184	NM_000498.3(CYP11B2):c.*532G>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 362185	NM_000498.3(CYP11B2):c.*504C>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362186	NM_000498.3(CYP11B2):c.*431A>C	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362187	NM_000498.3(CYP11B2):c.*299G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 909344	NM_000498.3(CYP11B2):c.*298C>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone methyloxidase type 2 deficiency +2 more	GUncertain significance
Select item 362188	NM_000498.3(CYP11B2):c.292_294dup	CYP11B2, LOC106799834	Duplication (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GBenign
Select item 362189	NM_000498.3(CYP11B2):c.*239T>C	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 910310	NM_000498.3(CYP11B2):c.*205G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362190	NM_000498.3(CYP11B2):c.*204C>G	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362191	NM_000498.3(CYP11B2):c.*81G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +3 more	GBenign
Select item 911520	NM_000498.3(CYP11B2):c.*25A>C	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 2873231	NM_000498.3(CYP11B2):c.1509C>T (p.Asn503=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239593	NM_000498.3(CYP11B2):c.1503G>C (p.Ala501=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1102075	NM_000498.3(CYP11B2):c.1503G>A (p.Ala501=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531202	NM_000498.3(CYP11B2):c.1500A>G (p.Arg500=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 16885	NM_000498.3(CYP11B2):c.1492A>G (p.Thr498Ala)	CYP11B2, LOC106799834 (T498A)	Single nucleotide variant (missense variant)	CYP11B2-related disorder	GLikely pathogenic
Select item 2735228	NM_000498.3(CYP11B2):c.1486del (p.Leu496fs)	CYP11B2, LOC106799834 (L496fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2893232	NM_000498.3(CYP11B2):c.1485C>G (p.Pro495=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1130571	NM_000498.3(CYP11B2):c.1485C>T (p.Pro495=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1619720	NM_000498.3(CYP11B2):c.1479G>A (p.Thr493=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671430	NM_000498.3(CYP11B2):c.1476C>A (p.Gly492=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1579748	NM_000498.3(CYP11B2):c.1465T>C (p.Leu489=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785897	NM_000498.3(CYP11B2):c.1461C>T (p.Phe487=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545694	NM_000498.3(CYP11B2):c.1458C>T (p.Ser486=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 908560	NM_000498.3(CYP11B2):c.1454A>G (p.Tyr485Cys)	CYP11B2, LOC106799834 (Y485C)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 2781318	NM_000498.3(CYP11B2):c.1452C>G (p.Val484=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 908561	NM_000498.3(CYP11B2):c.1441A>T (p.Ile481Leu)	CYP11B2, LOC106799834 (I481L)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 2992301	NM_000498.3(CYP11B2):c.1440C>T (p.Asp480=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1081783	NM_000498.3(CYP11B2):c.1428A>C (p.Leu476=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1156724	NM_000498.3(CYP11B2):c.1426C>T (p.Leu476=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301723	NM_000498.3(CYP11B2):c.1420G>A (p.Glu474Lys)	CYP11B2, LOC106799834 (E474K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1455726	NM_000498.3(CYP11B2):c.1416G>A (p.Leu472=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2142554	NM_000498.3(CYP11B2):c.1407G>A (p.Lys469=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007062	NM_000498.3(CYP11B2):c.1399G>A (p.Val467Met)	CYP11B2, LOC106799834 (V467M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741139	NM_000498.3(CYP11B2):c.1399-12C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913365	NM_000498.3(CYP11B2):c.1399-15C>G	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788838	NM_000498.3(CYP11B2):c.1398+19G>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858485	NM_000498.3(CYP11B2):c.1398+17G>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850529	NM_000498.3(CYP11B2):c.1398+17G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788839	NM_000498.3(CYP11B2):c.1398+16_1398+17del	CYP11B2, LOC106799834	Deletion (intron variant)	not provided	GLikely benign
Select item 2201421	NM_000498.3(CYP11B2):c.1398+17del	CYP11B2, LOC106799834	Deletion (intron variant)	not provided	GBenign
Select item 2910425	NM_000498.3(CYP11B2):c.1398+14G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967317	NM_000498.3(CYP11B2):c.1398+12T>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919975	NM_000498.3(CYP11B2):c.1398+12T>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 908562	NM_000498.3(CYP11B2):c.1398+10C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1608776	NM_000498.3(CYP11B2):c.1398+9G>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539390	NM_000498.3(CYP11B2):c.1398+9G>A	LOC106799834, CYP11B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 739471	NM_000498.3(CYP11B2):c.1398+7A>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3065791	NM_000498.3(CYP11B2):c.1398+2T>A	CYP11B2, LOC106799834	Single nucleotide variant (splice donor variant)	Corticosterone 18-monooxygenase deficiency	GUncertain significance
Select item 845894	NM_000498.3(CYP11B2):c.1398+2T>G	CYP11B2, LOC106799834	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 834390	NM_000498.3(CYP11B2):c.1398+1G>A	CYP11B2, LOC106799834	Single nucleotide variant (splice donor variant)	Corticosterone 18-monooxygenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1335720	NM_000498.3(CYP11B2):c.1379TGC[6] (p.Leu464dup)	CYP11B2, LOC106799834	Microsatellite (inframe_insertion)	not provided	GLikely pathogenic
Select item 2407446	NM_000498.3(CYP11B2):c.1393C>T (p.His465Tyr)	CYP11B2, LOC106799834 (H465Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2001801	NM_000498.3(CYP11B2):c.1390C>T (p.Leu464=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 8