"Invitae"[submitter] AND "DHCR7"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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
Select item 1071907	NM_001360.3(DHCR7):c.1328G>C (p.Arg443Pro)	DHCR7 (R443P)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 1066741	NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu)	DHCR7 (R443L)	Single nucleotide variant (missense variant)	DHCR7-related condition +2 more	GLikely pathogenic
Select item 397519	NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)	DHCR7 (R443H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557359	NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)	DHCR7 (R443C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 2851354	NM_001360.3(DHCR7):c.1326C>T (p.His442=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 854086	NM_001360.3(DHCR7):c.1325A>G (p.His442Arg)	DHCR7 (H442R)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 1066076	NM_001360.3(DHCR7):c.1324C>G (p.His442Asp)	DHCR7 (H442D)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 2720264	NM_001360.3(DHCR7):c.1323C>T (p.Thr441=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 1470116	NM_001360.3(DHCR7):c.1321A>G (p.Thr441Ala)	DHCR7 (T441A)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 1541585	NM_001360.3(DHCR7):c.1318C>T (p.Leu440=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 1150210	NM_001360.3(DHCR7):c.1315C>T (p.Leu439=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 759455	NM_001360.3(DHCR7):c.1314C>T (p.Ile438=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2918569	NM_001360.3(DHCR7):c.1293_1307del (p.Phe431_Met436delinsLeu)	DHCR7	Deletion (inframe_indel)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2991301	NM_001360.3(DHCR7):c.1305C>T (p.Tyr435=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 1105710	NM_001360.3(DHCR7):c.1299C>T (p.Ile433=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 1076651	NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys)	DHCR7 (Y432C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 1506319	NM_001360.3(DHCR7):c.1294T>C (p.Tyr432His)	DHCR7 (Y432H)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 1103781	NM_001360.3(DHCR7):c.1290C>T (p.Tyr430=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 813482	NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter)	DHCR7 (Y430*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 1150972	NM_001360.3(DHCR7):c.1287C>T (p.Pro429=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 1921051	NM_001360.3(DHCR7):c.1284G>C (p.Leu428=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 1561109	NM_001360.3(DHCR7):c.1284G>A (p.Leu428=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 1566939	NM_001360.3(DHCR7):c.1278C>T (p.His426=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 554159	NM_001360.3(DHCR7):c.1277A>C (p.His426Pro)	DHCR7 (H426P)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GConflicting classifications of pathogenicity
Select item 305953	NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser)	DHCR7 (G425S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 93708	NM_001360.3(DHCR7):c.1272C>T (p.Gly424=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1765447	NM_001360.3(DHCR7):c.1270G>T (p.Gly424Cys)	DHCR7 (G424C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 199067	NM_001360.3(DHCR7):c.1270G>A (p.Gly424Ser)	DHCR7 (G424S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1154201	NM_001360.3(DHCR7):c.1269C>A (p.Gly423=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 707135	NM_001360.3(DHCR7):c.1269C>T (p.Gly423=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related condition +2 more	GLikely benign
Select item 1763022	NM_001360.3(DHCR7):c.1260G>A (p.Leu420=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1647191	NM_001360.3(DHCR7):c.1254C>T (p.Tyr418=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1584771	NM_001360.3(DHCR7):c.1251C>T (p.Ala417=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 1535451	NM_001360.3(DHCR7):c.1242C>T (p.Gly414=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2183866	NM_001360.3(DHCR7):c.1236G>C (p.Leu412=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 799959	NM_001360.3(DHCR7):c.1234C>T (p.Leu412=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2156746	NM_001360.3(DHCR7):c.1230C>T (p.Gly410=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related condition +1 more	GLikely benign
Select item 1457187	NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg)	DHCR7 (G410R)	Single nucleotide variant (missense variant)	DHCR7-related condition +1 more	GPathogenic/Likely pathogenic
Select item 21272	NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)	DHCR7 (G410S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 796415	NM_001360.3(DHCR7):c.1227C>T (p.Val409=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 500337	NM_001360.3(DHCR7):c.1225G>A (p.Val409Ile)	DHCR7 (V409I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2790179	NM_001360.3(DHCR7):c.1224C>G (p.Tyr408Ter)	DHCR7 (T421R +7 more)	Single nucleotide variant (nonsense +1 more)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 1121396	NM_001360.3(DHCR7):c.1224C>T (p.Tyr408=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign

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