1584[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 881

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001243, LOC130001244 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001328, LOC130001329 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC114827840, LOC121331310 +961 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	LOC129390060, LOC129929031 +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	LOC126860527, LOC126860528 +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	LOC130001259, LOC130001260 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	MIR10400, MIR1234 +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 151995	GRCh38/hg38 8q24.3(chr8:142763122-142880038)x3	CYP11B1, GML +8 more	Copy number gain	See cases	GLikely benign
Select item 151078	GRCh38/hg38 8q24.3(chr8:142809777-142910556)x3	CYP11B1, GML +4 more	Copy number gain	See cases	GUncertain significance
Select item 908941	NM_000497.4(CYP11B1):c.*1979G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 909801	NM_000497.4(CYP11B1):c.*1944G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 909802	NM_000497.4(CYP11B1):c.*1929A>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362103	NM_000497.4(CYP11B1):c.*1871T>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign/Likely benign
Select item 362104	NM_000497.4(CYP11B1):c.*1852T>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign
Select item 362105	NM_000497.4(CYP11B1):c.*1770A>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 910703	NM_000497.4(CYP11B1):c.*1623G>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362106	NM_000497.4(CYP11B1):c.*1622C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362107	NM_000497.4(CYP11B1):c.*1590G>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 362108	NM_000497.4(CYP11B1):c.*1566G>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign
Select item 362109	NM_000497.4(CYP11B1):c.*1555del	CYP11B1	Deletion (3 prime UTR variant)	Congenital adrenal hyperplasia +1 more	GLikely benign
Select item 911927	NM_000497.4(CYP11B1):c.*1550C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362110	NM_000497.4(CYP11B1):c.*1512G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign/Likely benign
Select item 909005	NM_000497.4(CYP11B1):c.*1511C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 362111	NM_000497.4(CYP11B1):c.*1499C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign
Select item 909869	NM_000497.4(CYP11B1):c.*1476G>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362112	NM_000497.4(CYP11B1):c.*1435T>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362113	NM_000497.4(CYP11B1):c.*1417G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign
Select item 362114	NM_000497.4(CYP11B1):c.*1358T>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 910763	NM_000497.4(CYP11B1):c.*1313C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 910764	NM_000497.4(CYP11B1):c.*1296A>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362115	NM_000497.4(CYP11B1):c.*1288A>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign
Select item 910765	NM_000497.4(CYP11B1):c.*1264A>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362116	NM_000497.4(CYP11B1):c.*1258G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign/Likely benign
Select item 911986	NM_000497.4(CYP11B1):c.*1253G>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362117	NM_000497.4(CYP11B1):c.*1209C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362118	NM_000497.4(CYP11B1):c.*1164G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +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 362120	NM_000497.4(CYP11B1):c.*1076C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign/Likely benign
Select item 362121	NM_000497.4(CYP11B1):c.*1042A>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 362122	NM_000497.4(CYP11B1):c.*1020C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 909919	NM_000497.4(CYP11B1):c.*1012A>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 909920	NM_000497.4(CYP11B1):c.*946G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 362123	NM_000497.4(CYP11B1):c.*923G>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 362124	NM_000497.4(CYP11B1):c.*901G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362125	NM_000497.4(CYP11B1):c.*857T>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362126	NM_000497.4(CYP11B1):c.*848C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GConflicting classifications of pathogenicity
Select item 362127	NM_000497.4(CYP11B1):c.*738G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 362129	NM_000497.4(CYP11B1):c.*718T>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign/Likely benign
Select item 362130	NM_000497.4(CYP11B1):c.*694T>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 362131	NM_000497.4(CYP11B1):c.*670A>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 362132	NM_000497.4(CYP11B1):c.*634G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign/Likely benign
Select item 909134	NM_000497.4(CYP11B1):c.*614C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 362133	NM_000497.4(CYP11B1):c.*613A>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 909976	NM_000497.4(CYP11B1):c.*607C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 909977	NM_000497.4(CYP11B1):c.*596C>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 909978	NM_000497.4(CYP11B1):c.*516A>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362134	NM_000497.4(CYP11B1):c.*516A>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign
Select item 362135	NM_000497.4(CYP11B1):c.*495C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362136	NM_000497.4(CYP11B1):c.*485C>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362137	NM_000497.4(CYP11B1):c.*471A>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GBenign
Select item 362138	NM_000497.4(CYP11B1):c.*468C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GBenign/Likely benign
Select item 362139	NM_000497.4(CYP11B1):c.*400C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 912092	NM_000497.4(CYP11B1):c.*390A>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 908086	NM_000497.4(CYP11B1):c.*345C>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362140	NM_000497.4(CYP11B1):c.*318A>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign
Select item 908087	NM_000497.4(CYP11B1):c.*317T>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362141	NM_000497.4(CYP11B1):c.*245C>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 910039	NM_000497.4(CYP11B1):c.*244C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 910040	NM_000497.4(CYP11B1):c.*193A>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign/Likely benign
Select item 362142	NM_000497.4(CYP11B1):c.*193A>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GBenign/Likely benign
Select item 362143	NM_000497.4(CYP11B1):c.*132T>C	CYP11B1, LOC106799833	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 2822794	NM_000497.4(CYP11B1):c.1509C>T (p.Asn503=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812797	NM_000497.4(CYP11B1):c.1503C>T (p.Ala501=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1150996	NM_000497.4(CYP11B1):c.1500A>G (p.Arg500=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1159821	NM_000497.4(CYP11B1):c.1494C>T (p.Thr498=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761303	NM_000497.4(CYP11B1):c.1491C>G (p.Leu497=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730155	NM_000497.4(CYP11B1):c.1488C>A (p.Leu496=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 362144	NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GConflicting classifications of pathogenicity
Select item 552192	NM_000497.4(CYP11B1):c.1486del (p.Leu496fs)	CYP11B1, LOC106799833 (L496fs +1 more)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GConflicting classifications of pathogenicity
Select item 1704936	NM_000497.4(CYP11B1):c.1476C>A (p.Ser492Arg)	CYP11B1, LOC106799833 (S426R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440671	NM_000497.4(CYP11B1):c.1471C>T (p.Pro491Ser)	CYP11B1, LOC106799833 (P425S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 910935	NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 585762	NM_000497.4(CYP11B1):c.1460T>C (p.Phe487Ser)	CYP11B1, LOC106799833 (F487S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 9