"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PEX11B" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2125124	NM_003846.3(PEX11B):c.772A>C (p.Lys258Gln)	PEX11B (K258Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2004364	NM_003846.3(PEX11B):c.771C>T (p.Leu257=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2180388	NM_003846.3(PEX11B):c.767G>T (p.Arg256Leu)	PEX11B (R256L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 596526	NM_003846.3(PEX11B):c.767G>A (p.Arg256Gln)	PEX11B (R256Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 596341	NM_003846.3(PEX11B):c.766C>T (p.Arg256Ter)	PEX11B (R256* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1603976	NM_003846.3(PEX11B):c.750A>G (p.Leu250=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1387218	NM_003846.3(PEX11B):c.746C>A (p.Thr249Asn)	PEX11B (T249N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1483855	NM_003846.3(PEX11B):c.739A>G (p.Ile247Val)	PEX11B (I233V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1404930	NM_003846.3(PEX11B):c.721G>A (p.Val241Met)	PEX11B (V227M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1540953	NM_003846.3(PEX11B):c.720C>T (p.Leu240=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1086827	NM_003846.3(PEX11B):c.720C>G (p.Leu240=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887781	NM_003846.3(PEX11B):c.717C>T (p.Gly239=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2092104	NM_003846.3(PEX11B):c.711T>C (p.Leu237=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1441988	NM_003846.3(PEX11B):c.701T>C (p.Ile234Thr)	PEX11B (I220T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 764615	NM_003846.3(PEX11B):c.696T>G (p.Pro232=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2050803	NM_003846.3(PEX11B):c.691G>A (p.Gly231Ser)	PEX11B (G217S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1358763	NM_003846.3(PEX11B):c.689G>T (p.Cys230Phe)	PEX11B (C216F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1051506	NM_003846.3(PEX11B):c.686G>A (p.Arg229His)	PEX11B (R215H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 497778	NM_003846.3(PEX11B):c.685C>T (p.Arg229Cys)	PEX11B (R229C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1146608	NM_003846.3(PEX11B):c.681C>G (p.Leu227=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2008702	NM_003846.3(PEX11B):c.662C>G (p.Pro221Arg)	PEX11B (P207R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2131408	NM_003846.3(PEX11B):c.649G>T (p.Asp217Tyr)	PEX11B (D203Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1516353	NM_003846.3(PEX11B):c.643G>A (p.Ala215Thr)	PEX11B (A201T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1352191	NM_003846.3(PEX11B):c.631G>A (p.Val211Met)	PEX11B (V197M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1118851	NM_003846.3(PEX11B):c.630C>T (p.Asp210=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1393884	NM_003846.3(PEX11B):c.626T>C (p.Leu209Pro)	PEX11B (L209P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1671522	NM_003846.3(PEX11B):c.618A>G (p.Pro206=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 872436	NM_003846.3(PEX11B):c.617C>T (p.Pro206Leu)	PEX11B (P192L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 595893	NM_003846.3(PEX11B):c.613C>T (p.Pro205Ser)	PEX11B (P205S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2132238	NM_003846.3(PEX11B):c.606A>G (p.Arg202=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 594713	NM_003846.3(PEX11B):c.596G>A (p.Arg199Gln)	PEX11B (R199Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1940116	NM_003846.3(PEX11B):c.588C>T (p.Leu196=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1142455	NM_003846.3(PEX11B):c.588C>G (p.Leu196=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1159764	NM_003846.3(PEX11B):c.582C>G (p.Val194=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 594186	NM_003846.3(PEX11B):c.572G>A (p.Arg191Gln)	PEX11B (R191Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1513868	NM_003846.3(PEX11B):c.571C>T (p.Arg191Trp)	PEX11B (R177W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1448563	NM_003846.3(PEX11B):c.568C>T (p.Leu190Phe)	PEX11B (L190F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1349386	NM_003846.3(PEX11B):c.555A>T (p.Gln185His)	PEX11B (Q171H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1109140	NM_003846.3(PEX11B):c.555A>G (p.Gln185=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1363802	NM_003846.3(PEX11B):c.551C>T (p.Pro184Leu)	PEX11B (P184L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2183119	NM_003846.3(PEX11B):c.546T>C (p.Gly182=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1093621	NM_003846.3(PEX11B):c.546T>G (p.Gly182=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1999089	NM_003846.3(PEX11B):c.539G>A (p.Gly180Glu)	PEX11B (G180E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2005659	NM_003846.3(PEX11B):c.533C>T (p.Thr178Ile)	PEX11B (T178I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1132007	NM_003846.3(PEX11B):c.522G>A (p.Gly174=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1918570	NM_003846.3(PEX11B):c.521G>C (p.Gly174Ala)	PEX11B (G160A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1997971	NM_003846.3(PEX11B):c.518T>A (p.Leu173His)	PEX11B (L173H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413786	NM_003846.3(PEX11B):c.515G>T (p.Gly172Val)	PEX11B (G158V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2125324	NM_003846.3(PEX11B):c.514G>A (p.Gly172Arg)	PEX11B (G158R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 498134	NM_003846.3(PEX11B):c.510T>G (p.Thr170=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1374323	NM_003846.3(PEX11B):c.502A>C (p.Ser168Arg)	PEX11B (S168R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2065083	NM_003846.3(PEX11B):c.499G>A (p.Gly167Arg)	PEX11B (G167R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2013549	NM_003846.3(PEX11B):c.497G>A (p.Gly166Glu)	PEX11B (G166E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 757693	NM_003846.3(PEX11B):c.489A>C (p.Gly163=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1390576	NM_003846.3(PEX11B):c.484G>C (p.Gly162Arg)	PEX11B (G148R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 286117	NM_003846.3(PEX11B):c.483A>G (p.Gly161=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1018836	NM_003846.3(PEX11B):c.482G>A (p.Gly161Glu)	PEX11B (G147E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1349835	NM_003846.3(PEX11B):c.478T>C (p.Ser160Pro)	PEX11B (S146P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1495412	NM_003846.3(PEX11B):c.475G>T (p.Gly159Cys)	PEX11B (G145C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 970276	NM_003846.3(PEX11B):c.470T>C (p.Leu157Pro)	PEX11B (L157P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1915769	NM_003846.3(PEX11B):c.467G>A (p.Arg156Gln)	PEX11B (R142Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 943732	NM_003846.3(PEX11B):c.464G>A (p.Arg155Gln)	PEX11B (R155Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1463842	NM_003846.3(PEX11B):c.463C>A (p.Arg155=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 860078	NM_003846.3(PEX11B):c.461G>T (p.Ser154Ile)	PEX11B (S140I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 500524	NM_003846.3(PEX11B):c.458G>A (p.Cys153Tyr)	PEX11B (C153Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1906467	NM_003846.3(PEX11B):c.456T>G (p.Ala152=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 966964	NM_003846.3(PEX11B):c.448T>C (p.Ser150Pro)	PEX11B (S150P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 764699	NM_003846.3(PEX11B):c.441G>A (p.Glu147=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1083758	NM_003846.3(PEX11B):c.435G>A (p.Leu145=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1919003	NM_003846.3(PEX11B):c.432A>G (p.Leu144=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2103310	NM_003846.3(PEX11B):c.431T>C (p.Leu144Pro)	PEX11B (L144P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2416937	NM_003846.3(PEX11B):c.428G>A (p.Arg143His)	PEX11B (R129H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 966626	NM_003846.3(PEX11B):c.427C>T (p.Arg143Cys)	PEX11B (R129C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1941485	NM_003846.3(PEX11B):c.411T>C (p.Arg137=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1010067	NM_003846.3(PEX11B):c.410G>A (p.Arg137His)	PEX11B (R123H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1018354	NM_003846.3(PEX11B):c.409C>T (p.Arg137Cys)	PEX11B (R123C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1562253	NM_003846.3(PEX11B):c.393C>T (p.Leu131=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 501856	NM_003846.3(PEX11B):c.387T>G (p.Phe129Leu)	PEX11B (F129L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1945966	NM_003846.3(PEX11B):c.375-5A>G	PEX11B	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 501873	NM_003846.3(PEX11B):c.375-7G>A	PEX11B	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1944043	NM_003846.3(PEX11B):c.375-11C>T	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2074159	NM_003846.3(PEX11B):c.375-18T>G	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970009	NM_003846.3(PEX11B):c.375-18T>C	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015313	NM_003846.3(PEX11B):c.375-19C>T	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1107538	NM_003846.3(PEX11B):c.374+13G>A	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 593978	NM_003846.3(PEX11B):c.374+9T>C	PEX11B	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 3004362	NM_003846.3(PEX11B):c.374+7T>G	PEX11B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 758153	NM_003846.3(PEX11B):c.369A>T (p.Ser123=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1505053	NM_003846.3(PEX11B):c.365G>A (p.Arg122His)	PEX11B (R122H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1932695	NM_003846.3(PEX11B):c.363G>A (p.Gln121=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1431664	NM_003846.3(PEX11B):c.361C>T (p.Gln121Ter)	PEX11B (Q107* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 596712	NM_003846.3(PEX11B):c.349_351del (p.Glu117del)	PEX11B (E117del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2114526	NM_003846.3(PEX11B):c.338G>A (p.Arg113His)	PEX11B (R113H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 950158	NM_003846.3(PEX11B):c.337C>T (p.Arg113Cys)	PEX11B (R99C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2043438	NM_003846.3(PEX11B):c.327A>G (p.Gly109=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 858122	NM_003846.3(PEX11B):c.326G>A (p.Gly109Glu)	PEX11B (G109E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1650201	NM_003846.3(PEX11B):c.315T>C (p.Ala105=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1020332	NM_003846.3(PEX11B):c.310T>G (p.Trp104Gly)	PEX11B (W104G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1950658	NM_003846.3(PEX11B):c.309G>A (p.Leu103=)	PEX11B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 957320	NM_003846.3(PEX11B):c.304G>A (p.Val102Ile)	PEX11B (V102I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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