ClinVar for Gene (Select 126861258) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019372	NM_001258392.3(CLPB):c.1167+10G>A	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2990825	NM_001258392.3(CLPB):c.1205G>C (p.Gly402Ala)	CLPB, LOC126861258 (G373A +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2902096	NM_001258392.3(CLPB):c.1230C>T (p.Thr410=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2889301	NM_001258392.3(CLPB):c.1201G>A (p.Val401Ile)	CLPB, LOC126861258 (V372I +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2876473	NM_001258392.3(CLPB):c.1123-18T>C	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2864257	NM_001258392.3(CLPB):c.1168-3C>G	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2860113	NM_001258392.3(CLPB):c.1299G>C (p.Val433=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2838852	NM_001258392.3(CLPB):c.1297G>A (p.Val433Met)	CLPB, LOC126861258 (V418M +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2832530	NM_001258392.3(CLPB):c.1123-13T>C	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2828970	NM_001258392.3(CLPB):c.1181T>C (p.Ile394Thr)	CLPB, LOC126861258 (I394T +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2812245	NM_001258392.3(CLPB):c.1137G>A (p.Leu379=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2804505	NM_001258392.3(CLPB):c.1167+9T>C	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2722172	NM_001258392.3(CLPB):c.1245G>A (p.Gln415=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2700559	NM_001258392.3(CLPB):c.1184G>A (p.Gly395Glu)	CLPB, LOC126861258 (G395E +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2296567	NM_001258392.3(CLPB):c.1165G>T (p.Glu389Ter)	CLPB, LOC126861258 (E360* +3 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2199428	NM_001258392.3(CLPB):c.1132A>T (p.Arg378Trp)	CLPB, LOC126861258 (R363W +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2170435	NM_001258392.3(CLPB):c.1252A>C (p.Asn418His)	CLPB, LOC126861258 (N403H +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2116552	NM_001258392.3(CLPB):c.1123-3C>A	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2070836	NM_001258392.3(CLPB):c.1275A>G (p.Glu425=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2047241	NM_001258392.3(CLPB):c.1283A>G (p.Lys428Arg)	CLPB, LOC126861258 (K428R +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1963828	NM_001258392.3(CLPB):c.1167+3G>T	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1934792	NM_001258392.3(CLPB):c.1291C>T (p.Pro431Ser)	CLPB, LOC126861258 (P431S +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1684623	NM_001258392.3(CLPB):c.1167+5G>A	CLPB, LOC126861258	Single nucleotide variant (intron variant)	Neutropenia +1 more	GPathogenic
Select item 1676587	NM_001258392.3(CLPB):c.1190C>T (p.Pro397Leu)	CLPB, LOC126861258 (P427L +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 1615944	NM_001258392.3(CLPB):c.1123-14T>C	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1604137	NM_001258392.3(CLPB):c.1200C>T (p.Tyr400=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1578330	NM_001258392.3(CLPB):c.1312C>T (p.Leu438=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1539239	NM_001258392.3(CLPB):c.1134G>A (p.Arg378=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1515336	NM_001258392.3(CLPB):c.1329+1G>A	CLPB, LOC126861258	Single nucleotide variant (splice donor variant)	3-methylglutaconic aciduria, type VIIB	GLikely pathogenic
Select item 1506838	NM_001258392.3(CLPB):c.1197C>T (p.Gly399=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1475535	NM_001258392.3(CLPB):c.1228A>G (p.Thr410Ala)	CLPB, LOC126861258 (T410A +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1425799	NM_001258392.3(CLPB):c.1202T>C (p.Val401Ala)	CLPB, LOC126861258 (V372A +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1403614	NM_001258392.3(CLPB):c.1164C>G (p.His388Gln)	CLPB, LOC126861258 (H359Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1380815	NM_001258392.3(CLPB):c.1247G>T (p.Cys416Phe)	CLPB, LOC126861258 (C401F +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1355240	NM_001258392.3(CLPB):c.1300C>T (p.Leu434Phe)	CLPB, LOC126861258 (L419F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1341862	NM_001258392.3(CLPB):c.1308C>G (p.Ile436Met)	CLPB, LOC126861258 (I407M +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1206961	NM_001258392.3(CLPB):c.1167+102G>T	CLPB, LOC126861258	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189820	NM_001258392.3(CLPB):c.1123-41C>G	CLPB, LOC126861258	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178827	NM_001258392.3(CLPB):c.1329+50G>A	CLPB, LOC126861258	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1128717	NM_001258392.3(CLPB):c.1146C>T (p.Ser382=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1074465	NM_001258392.3(CLPB):c.1293dup (p.Asp432fs)	CLPB, LOC126861258 (D403fs +3 more)	Duplication (frameshift variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 1020252	NM_001258392.3(CLPB):c.1167+6T>C	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1017672	NM_001258392.3(CLPB):c.1123-3C>T	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 965747	NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys)	CLPB, LOC126861258 (E368K +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 964426	NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val)	CLPB, LOC126861258 (E390V +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 751679	NM_001258392.3(CLPB):c.1320G>A (p.Leu440=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 736944	NM_001258392.3(CLPB):c.1168-9T>C	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 724996	NM_001258392.3(CLPB):c.1140C>T (p.Asp380=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB +1 more	GConflicting classifications of pathogenicity
Select item 683866	NM_001258392.3(CLPB):c.1329+165T>C	CLPB, LOC126861258	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679616	NM_001258392.3(CLPB):c.1218T>C (p.Gly406=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB +1 more	GBenign/Likely benign
Select item 642638	NC_000011.10:g.(?_72293347)_(72434494_?)del	CLPB, LOC124500684 +9 more	Deletion	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 583353	NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu)	CLPB, LOC126861258 (P461L +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 574472	NM_001258392.3(CLPB):c.1167+5G>T	CLPB, LOC126861258	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 509454	NM_001258392.3(CLPB):c.1236G>A (p.Lys412=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 501665	NM_001258392.3(CLPB):c.1123-2A>G	CLPB, LOC126861258	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 476192	NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser)	CLPB, LOC126861258 (N448S +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GConflicting classifications of pathogenicity
Select item 382586	NM_001258392.3(CLPB):c.1164C>T (p.His388=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 382456	NM_001258392.3(CLPB):c.1287C>T (p.Ala429=)	CLPB, LOC126861258	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 187786	NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)	LOC126861258, CLPB (R417* +3 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 187785	NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)	CLPB, LOC126861258 (R408G +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +4 more	GPathogenic/Likely pathogenic
Select item 187783	NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)	CLPB, LOC126861258 (M411I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 187780	NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)	CLPB, LOC126861258	Inversion (missense variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance

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Items: 65