"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "DBT"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 457141	NC_000001.11:g.(?_100196235)_(100196442_?)del	DBT	Deletion	Maple syrup urine disease	GPathogenic
Select item 2117748	NM_001918.5(DBT):c.1441C>T (p.Leu481=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 93994	NM_001918.5(DBT):c.1430T>G (p.Met477Arg)	DBT (M477R)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 2421117	NM_001918.5(DBT):c.1420C>A (p.Pro474Thr)	DBT (P293T +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 2844810	NM_001918.5(DBT):c.1419C>T (p.Asn473=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 93993	NM_001918.5(DBT):c.1418A>G (p.Asn473Ser)	DBT (N473S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1121919	NM_001918.5(DBT):c.1410T>C (p.Tyr470=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1079117	NM_001918.5(DBT):c.1407C>G (p.Ser469=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1130030	NM_001918.5(DBT):c.1398G>A (p.Leu466=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2038385	NM_001918.5(DBT):c.1394A>G (p.Asn465Ser)	DBT (N284S +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 796032	NM_001918.5(DBT):c.1392C>T (p.Ser464=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 291452	NM_001918.5(DBT):c.1389C>T (p.Phe463=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 1407245	NM_001918.5(DBT):c.1385G>C (p.Arg462Pro)	DBT (R462P)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GPathogenic
Select item 1034868	NM_001918.5(DBT):c.1385G>A (p.Arg462His)	DBT (R462H)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 1505569	NM_001918.5(DBT):c.1384C>T (p.Arg462Cys)	DBT (R462C)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GLikely pathogenic
Select item 1106438	NM_001918.5(DBT):c.1383A>C (p.Ser461=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 557174	NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)	DBT (S461*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 1999496	NM_001918.5(DBT):c.1375A>G (p.Thr459Ala)	DBT (T459A +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 2418660	NM_001918.5(DBT):c.1372G>T (p.Ala458Ser)	DBT (A277S +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 1581181	NM_001918.5(DBT):c.1371T>C (p.Gly457=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1996486	NM_001918.5(DBT):c.1342_1351del (p.Trp448fs)	DBT (W267fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GPathogenic
Select item 1666633	NM_001918.5(DBT):c.1350T>G (p.Ala450=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2749000	NM_001918.5(DBT):c.1347A>G (p.Ser449=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 556615	NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)	DBT (W448*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic
Select item 1376132	NM_001918.5(DBT):c.1333_1336del (p.Met444_Asn445insTer)	DBT	Microsatellite (nonsense)	Maple syrup urine disease	GPathogenic
Select item 1369372	NM_001918.5(DBT):c.1324C>T (p.Gln442Ter)	DBT (Q442*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic
Select item 1100263	NM_001918.5(DBT):c.1320G>A (p.Lys440=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1629373	NM_001918.5(DBT):c.1317T>C (p.Tyr439=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1981504	NM_001918.5(DBT):c.1314A>G (p.Val438=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 1560181	NM_001918.5(DBT):c.1309G>A (p.Glu437Lys)	DBT (E437K)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 1254256	NM_001918.5(DBT):c.1292G>C (p.Arg431Pro)	DBT (R431P)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 93991	NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)	DBT (R431*)	Single nucleotide variant (nonsense)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 1368602	NM_001918.5(DBT):c.1283C>T (p.Ala428Val)	DBT (A428V)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 1161625	NM_001918.5(DBT):c.1282-4C>T	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 726670	NM_001918.5(DBT):c.1282-4C>A	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2415246	NM_001918.5(DBT):c.1282-7T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2980019	NM_001918.5(DBT):c.1282-10_1282-9dup	DBT	Duplication (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2741596	NM_001918.5(DBT):c.1282-9dup	DBT	Duplication (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1618338	NM_001918.5(DBT):c.1282-8A>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2721622	NM_001918.5(DBT):c.1282-16_1282-9del	DBT	Deletion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2080573	NM_001918.5(DBT):c.1282-11_1282-9del	DBT	Deletion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1556784	NM_001918.5(DBT):c.1282-21_1282-10dup	DBT	Duplication (intron variant)	Maple syrup urine disease	GLikely benign
Select item 790386	NM_001918.5(DBT):c.1282-14_1282-10dup	DBT	Duplication (intron variant)	not provided	GBenign
Select item 781777	NM_001918.5(DBT):c.1282-15_1282-10dup	DBT	Duplication (intron variant)	not provided	GBenign
Select item 775570	NM_001918.5(DBT):c.1282-24_1282-10dup	DBT	Duplication (intron variant)	Maple syrup urine disease	GBenign
Select item 775136	NM_001918.5(DBT):c.1282-13_1282-10dup	DBT	Duplication (intron variant)	not provided	GBenign
Select item 738787	NM_001918.5(DBT):c.1282-15_1282-9del	DBT	Deletion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 738558	NM_001918.5(DBT):c.1282-9C>A	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 738317	NM_001918.5(DBT):c.1282-12_1282-9del	DBT	Deletion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 723169	NM_001918.5(DBT):c.1282-13_1282-9del	DBT	Deletion (intron variant)	Maple syrup urine disease type 1A +1 more	GBenign/Likely benign
Select item 720095	NM_001918.5(DBT):c.1282-23_1282-10dup	DBT	Duplication (intron variant)	not provided	GBenign
Select item 439589	NM_001918.5(DBT):c.1282-14_1282-9del	DBT	Deletion (intron variant)	Maple syrup urine disease +1 more	GBenign
Select item 2081504	NM_001918.5(DBT):c.1282-22_1282-10del	DBT	Deletion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1672886	NM_001918.5(DBT):c.1282-23_1282-10del	DBT	Deletion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1661283	NM_001918.5(DBT):c.1282-18_1282-10del	DBT	Deletion (intron variant)	Maple syrup urine disease	GBenign
Select item 1598639	NM_001918.5(DBT):c.1282-19_1282-10del	DBT	Deletion (intron variant)	Maple syrup urine disease	GBenign
Select item 1586348	NM_001918.5(DBT):c.1282-25_1282-10del	DBT	Deletion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1545646	NM_001918.5(DBT):c.1282-26_1282-10del	DBT	Deletion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1129807	NM_001918.5(DBT):c.1282-21_1282-10del	DBT	Deletion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1108915	NM_001918.5(DBT):c.1282-24_1282-10del	DBT	Deletion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1080883	NM_001918.5(DBT):c.1282-20_1282-10del	DBT	Deletion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 3022645	NM_001918.5(DBT):c.1282-13T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1620962	NM_001918.5(DBT):c.1282-13T>A	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1547569	NM_001918.5(DBT):c.1282-14T>A	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1567333	NM_001918.5(DBT):c.1282-15T>A	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2883583	NM_001918.5(DBT):c.1282-16T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2732106	NM_001918.5(DBT):c.1282-16T>A	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2918041	NM_001918.5(DBT):c.1282-18T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2067167	NM_001918.5(DBT):c.1282-19T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2707120	NM_001918.5(DBT):c.1282-20T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2959458	NM_001918.5(DBT):c.1281+8_1281+20del	DBT	Deletion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2898983	NM_001918.5(DBT):c.1281+18C>T	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2799778	NM_001918.5(DBT):c.1281+13G>A	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 1159211	NM_001918.5(DBT):c.1281+10T>C	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 2119069	NM_001918.5(DBT):c.1281+9A>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 93990	NM_001918.5(DBT):c.1281+6T>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease +2 more	GBenign/Likely benign
Select item 965930	NM_001918.5(DBT):c.1281+5A>G	DBT	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 1076295	NM_001918.5(DBT):c.1281+2T>A	DBT	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GPathogenic
Select item 1067714	NM_001918.5(DBT):c.1281+1G>C	DBT	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 1477250	NM_001918.5(DBT):c.1276A>G (p.Ile426Val)	DBT (I426V)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 752702	NM_001918.5(DBT):c.1275A>G (p.Ser425=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 1080046	NM_001918.5(DBT):c.1269T>C (p.Leu423=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 844162	NM_001918.5(DBT):c.1264dup (p.Ala422fs)	DBT (A422fs)	Duplication (frameshift variant)	Maple syrup urine disease	GPathogenic
Select item 2414214	NM_001918.5(DBT):c.1264G>A (p.Ala422Thr)	DBT (A241T +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 203669	NM_001918.5(DBT):c.1261G>T (p.Gly421Trp)	DBT (G421W)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 2719098	NM_001918.5(DBT):c.1260T>C (p.Ile420=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2159649	NM_001918.5(DBT):c.1259T>C (p.Ile420Thr)	DBT (I239T +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 1980735	NM_001918.5(DBT):c.1251A>G (p.Glu417=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 1569995	NM_001918.5(DBT):c.1248T>C (p.Pro416=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease	GLikely benign
Select item 2063315	NM_001918.5(DBT):c.1245A>G (p.Pro415=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2907289	NM_001918.5(DBT):c.1238T>C (p.Ile413Thr)	DBT (I232T +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 1453507	NM_001918.5(DBT):c.1232C>T (p.Pro411Leu)	DBT (P411L)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GPathogenic
Select item 2060661	NM_001918.5(DBT):c.1230A>C (p.Lys410Asn)	DBT (K229N +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 2822829	NM_001918.5(DBT):c.1227C>T (p.Ala409=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2836218	NM_001918.5(DBT):c.1221C>T (p.Thr407=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 1939334	NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)	DBT (T407A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 570521	NM_001918.5(DBT):c.1217G>T (p.Gly406Val)	DBT (G406V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2865341	NM_001918.5(DBT):c.1215T>C (p.Gly405=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 2810005	NM_001918.5(DBT):c.1212T>C (p.Ile404=)	DBT	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 1381528	NM_001918.5(DBT):c.1212T>G (p.Ile404Met)	DBT (I404M)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance

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