LMBRD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 148992	GRCh38/hg38 6q12-13(chr6:68735649-70794393)x4	ADGRB3, COL19A1 +35 more	Copy number gain	See cases	GPathogenic
Select item 357764	NM_018368.4(LMBRD1):c.*395T>C	LMBRD1	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria and homocystinuria type cblF	GBenign
Select item 908112	NM_018368.4(LMBRD1):c.*384A>C	LMBRD1	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 357765	NM_018368.4(LMBRD1):c.*341C>T	LMBRD1	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria and homocystinuria type cblF	GBenign
Select item 910059	NM_018368.4(LMBRD1):c.*220G>T	LMBRD1	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 910060	NM_018368.4(LMBRD1):c.*166A>G	LMBRD1	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 357766	NM_018368.4(LMBRD1):c.*125A>G	LMBRD1	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 357767	NM_018368.4(LMBRD1):c.*77G>T	LMBRD1	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 910061	NM_018368.4(LMBRD1):c.*26A>G	LMBRD1	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 2893414	NM_018368.4(LMBRD1):c.1614T>C (p.Tyr538=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 1487617	NM_018368.4(LMBRD1):c.1613A>G (p.Tyr538Cys)	LMBRD1 (Y538C +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 910062	NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GConflicting classifications of pathogenicity
Select item 1618498	NM_018368.4(LMBRD1):c.1605C>G (p.Pro535=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2694543	NM_018368.4(LMBRD1):c.1599T>C (p.Asp533=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 1361288	NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly)	LMBRD1 (E526G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2843860	NM_018368.4(LMBRD1):c.1572A>G (p.Val524=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3290901	NM_018368.4(LMBRD1):c.1566A>T (p.Glu522Asp)	LMBRD1 (E449D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2720208	NM_018368.4(LMBRD1):c.1557G>T (p.Ser519=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 750130	NM_018368.4(LMBRD1):c.1557G>A (p.Ser519=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 1365005	NM_018368.4(LMBRD1):c.1556C>T (p.Ser519Leu)	LMBRD1 (S446L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2627386	NM_018368.4(LMBRD1):c.1538G>A (p.Cys513Tyr)	LMBRD1 (C440Y +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 2308452	NM_018368.4(LMBRD1):c.1531G>A (p.Val511Ile)	LMBRD1 (V438I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2698741	NM_018368.4(LMBRD1):c.1530T>C (p.Ile510=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2842013	NM_018368.4(LMBRD1):c.1524A>T (p.Gly508=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 684470	NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)	LMBRD1 (V504L +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 2770581	NM_018368.4(LMBRD1):c.1510-4A>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2852813	NM_018368.4(LMBRD1):c.1510-9A>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2984665	NM_018368.4(LMBRD1):c.1510-11T>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2797543	NM_018368.4(LMBRD1):c.1510-16T>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 389401	NM_018368.4(LMBRD1):c.1510-17C>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF +1 more	GBenign/Likely benign
Select item 1623358	NM_018368.4(LMBRD1):c.1510-19G>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 1267470	NM_018368.4(LMBRD1):c.1510-84T>C	LMBRD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261024	NM_018368.4(LMBRD1):c.1509+22G>A	LMBRD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 509272	NM_018368.4(LMBRD1):c.1509+20G>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF +1 more	GLikely benign
Select item 381430	NM_018368.4(LMBRD1):c.1509+20G>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF +1 more	GBenign
Select item 384196	NM_018368.4(LMBRD1):c.1509+19C>T	LMBRD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2732495	NM_018368.4(LMBRD1):c.1509+18A>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3021822	NM_018368.4(LMBRD1):c.1509+15C>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2897154	NM_018368.4(LMBRD1):c.1509+13A>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 1633621	NM_018368.4(LMBRD1):c.1509+12T>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3002981	NM_018368.4(LMBRD1):c.1509+7G>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2736149	NM_018368.4(LMBRD1):c.1503T>C (p.Phe501=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 910960	NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu)	LMBRD1 (F428L +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF +1 more	GUncertain significance
Select item 2961380	NM_018368.4(LMBRD1):c.1500C>T (p.Ala500=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3119239	NM_018368.4(LMBRD1):c.1478C>A (p.Ala493Asp)	LMBRD1 (A420D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2853542	NM_018368.4(LMBRD1):c.1473T>C (p.Ser491=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2839479	NM_018368.4(LMBRD1):c.1470C>T (p.Phe490=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2914710	NM_018368.4(LMBRD1):c.1443C>A (p.Tyr481Ter)	LMBRD1 (Y408* +1 more)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblF	GPathogenic
Select item 2795004	NM_018368.4(LMBRD1):c.1443C>T (p.Tyr481=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3119238	NM_018368.4(LMBRD1):c.1442A>G (p.Tyr481Cys)	LMBRD1 (Y408C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 441041	NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)	LMBRD1 (T480A +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 2157057	NM_018368.4(LMBRD1):c.1436G>A (p.Arg479Gln)	LMBRD1 (R406Q +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 1973264	NM_018368.4(LMBRD1):c.1435C>T (p.Arg479Trp)	LMBRD1 (R406W +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 2028639	NM_018368.4(LMBRD1):c.1434C>G (p.Thr478=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2985659	NM_018368.4(LMBRD1):c.1418-14A>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 1575175	NM_018368.4(LMBRD1):c.1418-16T>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 1618505	NM_018368.4(LMBRD1):c.1418-20T>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 1201305	NM_018368.4(LMBRD1):c.1418-224dup	LMBRD1	Duplication (intron variant)	not provided	GLikely benign
Select item 1216959	NM_018368.4(LMBRD1):c.1418-215del	LMBRD1	Deletion (intron variant)	not provided	GLikely benign
Select item 1221425	NM_018368.4(LMBRD1):c.1418-220T>C	LMBRD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269430	NM_018368.4(LMBRD1):c.1417+139T>A	LMBRD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2836358	NM_018368.4(LMBRD1):c.1417+12T>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 713072	NM_018368.4(LMBRD1):c.1417+9A>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 729969	NM_018368.4(LMBRD1):c.1410T>G (p.Ala470=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 138124	NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu)	LMBRD1 (D469E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 752042	NM_018368.4(LMBRD1):c.1404A>T (p.Ala468=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2489534	NM_018368.4(LMBRD1):c.1403C>T (p.Ala468Val)	LMBRD1 (A395V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290897	NM_018368.4(LMBRD1):c.1397G>A (p.Cys466Tyr)	LMBRD1 (C466Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1683362	NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs)	LMBRD1 (C393fs +1 more)	Insertion (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 1540500	NM_018368.4(LMBRD1):c.1389A>G (p.Pro463=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2813193	NM_018368.4(LMBRD1):c.1383T>A (p.Ser461=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 1479834	NM_018368.4(LMBRD1):c.1382C>G (p.Ser461Cys)	LMBRD1 (S461C +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 2149786	NM_018368.4(LMBRD1):c.1370A>G (p.Asn457Ser)	LMBRD1 (N384S +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 2719873	NM_018368.4(LMBRD1):c.1368C>A (p.Gly456=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2836228	NM_018368.4(LMBRD1):c.1353T>C (p.Ser451=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 357768	NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met)	LMBRD1 (I449M +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 1403521	NM_018368.4(LMBRD1):c.1346T>C (p.Ile449Thr)	LMBRD1 (I449T +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 1389120	NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr)	LMBRD1 (N375T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2896084	NM_018368.4(LMBRD1):c.1341T>G (p.Thr447=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 1323238	NM_018368.4(LMBRD1):c.1339-1G>T	LMBRD1	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria and homocystinuria type cblF	GPathogenic/Likely pathogenic
Select item 2764143	NM_018368.4(LMBRD1):c.1339-8T>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2916266	NM_018368.4(LMBRD1):c.1339-12T>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2967996	NM_018368.4(LMBRD1):c.1339-18T>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 1274130	NM_018368.4(LMBRD1):c.1339-224A>G	LMBRD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321783	NM_018368.4(LMBRD1):c.1338+64A>G	LMBRD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1324667	NM_018368.4(LMBRD1):c.1338+2T>C	LMBRD1	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria and homocystinuria type cblF +2 more	GConflicting classifications of pathogenicity
Select item 2836359	NM_018368.4(LMBRD1):c.1338+1G>C	LMBRD1	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely pathogenic
Select item 1429331	NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser)	LMBRD1 (L444S +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 2800010	NM_018368.4(LMBRD1):c.1321C>T (p.Gln441Ter)	LMBRD1 (Q441* +1 more)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblF	GPathogenic
Select item 2099874	NM_018368.4(LMBRD1):c.1317A>T (p.Gly439=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2998075	NM_018368.4(LMBRD1):c.1302A>G (p.Gln434=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2874357	NM_018368.4(LMBRD1):c.1299C>G (p.Pro433=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2068925	NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys)	LMBRD1 (Y429C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2978678	NM_018368.4(LMBRD1):c.1284T>A (p.Ile428=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3010436	NM_018368.4(LMBRD1):c.1251dup (p.Leu418fs)	LMBRD1 (L345fs +1 more)	Duplication (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblF	GPathogenic
Select item 2850004	NM_018368.4(LMBRD1):c.1248A>T (p.Ile416=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2822877	NM_018368.4(LMBRD1):c.1239C>T (p.Leu413=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2756017	NM_018368.4(LMBRD1):c.1224A>G (p.Gln408=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 958218	NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys)	LMBRD1 (R406K +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance

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