1717[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	LOC130006238, LOC130006239 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance
Select item 305932	NM_001360.3(DHCR7):c.*790C>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 305933	NM_001360.3(DHCR7):c.*779T>C	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 305934	NM_001360.3(DHCR7):c.*765G>A	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 305935	NM_001360.3(DHCR7):c.*761A>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 881592	NM_001360.3(DHCR7):c.*755C>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 305936	NM_001360.3(DHCR7):c.*734A>G	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GBenign
Select item 882743	NM_001360.3(DHCR7):c.*723C>A	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 305937	NM_001360.3(DHCR7):c.*700G>A	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 305938	NM_001360.3(DHCR7):c.*681T>C	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 305939	NM_001360.3(DHCR7):c.*644G>A	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 305940	NM_001360.3(DHCR7):c.*643C>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GBenign
Select item 882744	NM_001360.3(DHCR7):c.*565G>A	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 305941	NM_001360.3(DHCR7):c.*480C>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GBenign
Select item 305942	NM_001360.3(DHCR7):c.*451A>G	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 305943	NM_001360.3(DHCR7):c.*438G>A	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 305944	NM_001360.3(DHCR7):c.*424G>A	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 305945	NM_001360.3(DHCR7):c.*417C>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 883536	NM_001360.3(DHCR7):c.*358C>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 305946	NM_001360.3(DHCR7):c.*324C>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 305947	NM_001360.3(DHCR7):c.*261G>A	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 881160	NM_001360.3(DHCR7):c.*226C>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome +1 more	GConflicting classifications of pathogenicity
Select item 881161	NM_001360.3(DHCR7):c.*192C>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 305948	NM_001360.3(DHCR7):c.161_172del	DHCR7	Deletion (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 305949	NM_001360.3(DHCR7):c.*119G>A	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome +1 more	GConflicting classifications of pathogenicity
Select item 881162	NM_001360.3(DHCR7):c.*101C>G	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 881163	NM_001360.3(DHCR7):c.*85C>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 881164	NM_001360.3(DHCR7):c.*63G>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 881165	NM_001360.3(DHCR7):c.*57C>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 881166	NM_001360.3(DHCR7):c.*28G>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome +1 more	GConflicting classifications of pathogenicity
Select item 305950	NM_001360.3(DHCR7):c.*25G>A	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 881633	NM_001360.3(DHCR7):c.*20G>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 3030902	NM_001360.3(DHCR7):c.*7G>A	DHCR7	Single nucleotide variant (3 prime UTR variant)	DHCR7-related condition	GLikely benign
Select item 881634	NM_001360.3(DHCR7):c.*4C>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 1534477	NM_001360.3(DHCR7):c.1427A>G (p.Ter476=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 558380	NM_001360.3(DHCR7):c.1426T>A (p.Ter476Lys)	DHCR7	Single nucleotide variant (stop lost)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 188942	NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln)	DHCR7	Single nucleotide variant (stop lost)	Smith-Lemli-Opitz syndrome	GConflicting classifications of pathogenicity
Select item 1518612	NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser)	DHCR7 (F475S)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2836043	NM_001360.3(DHCR7):c.1419A>T (p.Gly473=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2836604	NM_001360.3(DHCR7):c.1416T>A (p.Pro472=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 1084648	NM_001360.3(DHCR7):c.1416T>G (p.Pro472=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related condition +1 more	GLikely benign
Select item 1582898	NM_001360.3(DHCR7):c.1413G>A (p.Leu471=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 501850	NM_001360.3(DHCR7):c.1410G>A (p.Leu470=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +3 more	GConflicting classifications of pathogenicity
Select item 520690	NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln)	DHCR7 (L470Q)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1121804	NM_001360.3(DHCR7):c.1408C>T (p.Leu470=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2996081	NM_001360.3(DHCR7):c.1407C>T (p.Arg469=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 596851	NM_001360.3(DHCR7):c.1406G>A (p.Arg469His)	DHCR7 (R469H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 449476	NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro)	DHCR7 (R469P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 550425	NM_001360.3(DHCR7):c.1405C>T (p.Arg469Cys)	DHCR7 (R469C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GUncertain significance
Select item 1999612	NM_001360.3(DHCR7):c.1404C>G (p.Tyr468Ter)	DHCR7 (Y468*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2230257	NM_001360.3(DHCR7):c.1402T>C (p.Tyr468His)	DHCR7 (Y468H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2789912	NM_001360.3(DHCR7):c.1399C>T (p.Pro467Ser)	DHCR7 (P409S +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 1605707	NM_001360.3(DHCR7):c.1398G>A (p.Val466=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2137188	NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala)	DHCR7 (V466A)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 265097	NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)	DHCR7 (V466M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1910168	NM_001360.3(DHCR7):c.1395A>T (p.Ala465=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2028739	NM_001360.3(DHCR7):c.1393G>T (p.Ala465Ser)	DHCR7 (A465S)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 1148115	NM_001360.3(DHCR7):c.1392C>T (p.Ala464=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 1699613	NM_001360.3(DHCR7):c.1390G>A (p.Ala464Thr)	DHCR7 (A464T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 305951	NM_001360.3(DHCR7):c.1389C>T (p.Thr463=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1771400	NM_001360.3(DHCR7):c.1386C>T (p.Tyr462=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +1 more	GLikely benign
Select item 555412	NM_001360.3(DHCR7):c.1386C>A (p.Tyr462Ter)	DHCR7 (Y462*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 2119342	NM_001360.3(DHCR7):c.1385A>G (p.Tyr462Cys)	DHCR7 (Y462C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 93711	NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)	DHCR7 (Y462H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305952	NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys)	DHCR7 (R461C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2642105	NM_001360.3(DHCR7):c.1380G>A (p.Glu460=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043101	NM_001360.3(DHCR7):c.1379A>G (p.Glu460Gly)	DHCR7 (E460G)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GUncertain significance
Select item 558361	NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter)	DHCR7 (W459*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GConflicting classifications of pathogenicity
Select item 1969075	NM_001360.3(DHCR7):c.1373A>G (p.Asp458Gly)	DHCR7 (D458G)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 285508	NM_001360.3(DHCR7):c.1370G>A (p.Arg457Gln)	DHCR7 (R457Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1303263	NM_001360.3(DHCR7):c.1369C>T (p.Arg457Trp)	DHCR7 (R457W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 93710	NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 595131	NM_001360.3(DHCR7):c.1366G>A (p.Gly456Ser)	DHCR7 (G456S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2765084	NM_001360.3(DHCR7):c.1365C>A (p.Tyr455Ter)	DHCR7 (Y467* +5 more)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 290040	NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 845964	NM_001360.3(DHCR7):c.1364A>T (p.Tyr455Phe)	DHCR7 (Y455F)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 199066	NM_001360.3(DHCR7):c.1362G>A (p.Lys454=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1392687	NM_001360.3(DHCR7):c.1360A>T (p.Lys454Ter)	DHCR7 (K454*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2127833	NM_001360.3(DHCR7):c.1359C>T (p.Ser453=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 2811649	NM_001360.3(DHCR7):c.1356C>T (p.Ala452=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 1098789	NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr)	DHCR7 (A452T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 730544	NM_001360.3(DHCR7):c.1353C>T (p.Cys451=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2798881	NM_001360.3(DHCR7):c.1352G>T (p.Cys451Phe)	DHCR7 (C463F +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 1709241	NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)	DHCR7 (C451R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2570805	NM_001360.3(DHCR7):c.1350C>G (p.Arg450=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 652894	NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu)	DHCR7 (R450L)	Indel (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 558558	NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)	DHCR7 (R450H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2174465	NM_001360.3(DHCR7):c.1348C>T (p.Arg450Cys)	DHCR7 (R450C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 282268	NM_001360.3(DHCR7):c.1348del (p.Arg450fs)	DHCR7 (R450fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1627529	NM_001360.3(DHCR7):c.1347C>T (p.His449=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 813422	NM_001360.3(DHCR7):c.1342_1344delinsC (p.Glu448fs)	DHCR7 (E448fs)	Indel (frameshift variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 554965	NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln)	DHCR7 (E448Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 6792	NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)	DHCR7 (E448K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 93709	NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related condition +4 more	GBenign/Likely benign
Select item 1568792	NM_001360.3(DHCR7):c.1338G>C (p.Arg446=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 1066906	NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro)	DHCR7 (R446P)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 1047373	NM_001360.3(DHCR7):c.1334_1336dup (p.Leu445dup)	DHCR7	Duplication (inframe_insertion)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 431994	NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)	DHCR7 (R446Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551257	NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp)	DHCR7 (R446W)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GConflicting classifications of pathogenicity

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