"GeneDx"[submitter] AND "PDHX"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 683416	NM_003477.2(PDHX):c.-840C>T	APIP, PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683419	NM_003477.2(PDHX):c.-787G>A	APIP, PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683422	NM_003477.2(PDHX):c.-717G>C	PDHX, APIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252351	NC_000011.10:g.34916054A>T	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 304443	NM_003477.2(PDHX):c.-506T>C	PDHX, APIP +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 304444	NM_003477.2(PDHX):c.-505G>A	LOC130005547, PDHX +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 304445	NM_003477.2(PDHX):c.-390G>A	APIP, LOC130005547 +1 more (R7W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 304449	NM_003477.2(PDHX):c.-319G>A	PDHX, APIP +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304450	NM_003477.2(PDHX):c.-302A>G	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304451	NM_003477.2(PDHX):c.-272G>A	PDHX	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 304454	NM_003477.2(PDHX):c.-202A>G	PDHX	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304456	NM_003477.2(PDHX):c.-129_-127delCGG	PDHX	Deletion (intron variant)	not provided +1 more	GBenign
Select item 304457	NM_003477.2(PDHX):c.-129C>T	PDHX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 304458	NM_003477.2(PDHX):c.-124G>C	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304459	NM_003477.2(PDHX):c.-88C>A	PDHX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 513601	NM_003477.3(PDHX):c.-27C>G	LOC130005549, PDHX	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 214953	NM_003477.3(PDHX):c.-23C>A	LOC130005549, PDHX	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 286346	NM_003477.3(PDHX):c.-4C>G	LOC130005549, PDHX	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 30752	NM_003477.3(PDHX):c.44G>A (p.Arg15His)	LOC130005549, PDHX (R15H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 304461	NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser)	LOC130005549, PDHX (Y16S)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GConflicting classifications of pathogenicity
Select item 286137	NM_003477.3(PDHX):c.63C>T (p.Pro21=)	LOC130005549, PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 286347	NM_003477.3(PDHX):c.67C>T (p.Arg23Cys)	LOC130005549, PDHX (R23C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 138654	NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)	PDHX, LOC130005549 (R24G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 286348	NM_003477.3(PDHX):c.108T>C (p.Ser36=)	PDHX, LOC130005549	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 424121	NM_003477.3(PDHX):c.134G>A (p.Trp45Ter)	LOC130005549, PDHX (W45*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GLikely pathogenic
Select item 214954	NM_003477.3(PDHX):c.160G>A (p.Gly54Ser)	LOC130005549, PDHX (G54S)	Single nucleotide variant (missense variant +1 more)	not specified	GConflicting classifications of pathogenicity
Select item 379681	NM_003477.3(PDHX):c.160+12G>C	LOC130005549, PDHX	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 138655	NM_003477.3(PDHX):c.160+15C>G	LOC130005549, PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GBenign/Likely benign
Select item 671563	NM_003477.3(PDHX):c.160+94A>G	LOC130005549, PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683423	NM_003477.3(PDHX):c.160+189A>G	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215348	NM_003477.3(PDHX):c.161-280dup	PDHX	Duplication (intron variant)	not provided	GLikely benign
Select item 422502	NM_003477.3(PDHX):c.161-10dup	PDHX	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 304462	NM_003477.3(PDHX):c.161-6T>C	PDHX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 138656	NM_003477.3(PDHX):c.241+3G>A	PDHX	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 513175	NM_003477.3(PDHX):c.241+15T>A	PDHX	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 671564	NM_003477.3(PDHX):c.241+24C>A	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294262	NM_003477.3(PDHX):c.241+56dup	PDHX	Duplication (intron variant)	not provided	GBenign
Select item 1196377	NM_003477.3(PDHX):c.241+55_241+56dup	PDHX	Duplication (intron variant)	not provided	GLikely benign
Select item 1232631	NM_003477.3(PDHX):c.241+57G>T	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224755	NM_003477.3(PDHX):c.241+68dup	PDHX	Duplication (intron variant)	not provided	GBenign
Select item 1215154	NM_003477.3(PDHX):c.241+59_241+60insG	PDHX	Insertion (intron variant)	not provided	GLikely benign
Select item 673749	NM_003477.3(PDHX):c.241+173G>A	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1331339	NM_003477.3(PDHX):c.248C>T (p.Ala83Val)	PDHX (A23V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2360656	NM_003477.3(PDHX):c.250G>A (p.Val84Met)	PDHX (V24M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 304463	NM_003477.3(PDHX):c.301A>G (p.Thr101Ala)	PDHX (T101A +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 282337	NM_003477.3(PDHX):c.317A>G (p.Asp106Gly)	PDHX (D106G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 138657	NM_003477.3(PDHX):c.339C>T (p.Ile113=)	PDHX	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1268934	NM_003477.3(PDHX):c.342+119dup	PDHX	Duplication (intron variant)	not provided	GBenign
Select item 1205611	NM_003477.3(PDHX):c.343-49G>A	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182309	NM_003477.3(PDHX):c.343-39G>A	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259969	NM_003477.3(PDHX):c.343-15_343-13del	PDHX	Microsatellite (intron variant)	not provided	GBenign
Select item 1103998	NM_003477.3(PDHX):c.343-7A>C	PDHX	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 681462	NM_003477.3(PDHX):c.411T>C (p.Asp137=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 138658	NM_003477.3(PDHX):c.438C>T (p.Asp146=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 514073	NM_003477.3(PDHX):c.462A>G (p.Ser154=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 304464	NM_003477.3(PDHX):c.474G>A (p.Glu158=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2507160	NM_003477.3(PDHX):c.507C>G (p.Ile169Met)	PDHX (I109M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 138659	NM_003477.3(PDHX):c.507C>T (p.Ile169=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 378346	NM_003477.3(PDHX):c.526A>G (p.Ile176Val)	PDHX (I176V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 138660	NM_003477.3(PDHX):c.531C>T (p.Pro177=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GBenign
Select item 304466	NM_003477.3(PDHX):c.532G>A (p.Gly178Arg)	PDHX (G178R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 304467	NM_003477.3(PDHX):c.542+10T>C	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1210633	NM_003477.3(PDHX):c.542+97A>G	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287847	NM_003477.3(PDHX):c.542+157del	PDHX	Deletion (intron variant)	not provided	GBenign
Select item 683427	NM_003477.3(PDHX):c.542+192C>T	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138661	NM_003477.3(PDHX):c.566G>A (p.Arg189His)	PDHX (R189H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 214955	NM_003477.3(PDHX):c.579A>G (p.Glu193=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 214960	NM_003477.3(PDHX):c.589C>A (p.Leu197Met)	PDHX (L197M +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 378347	NM_003477.3(PDHX):c.618C>G (p.Gly206=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 214961	NM_003477.3(PDHX):c.623G>A (p.Arg208Gln)	PDHX (R208Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214962	NM_003477.3(PDHX):c.640G>C (p.Glu214Gln)	PDHX (E214Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 304470	NM_003477.3(PDHX):c.641+4T>C	PDHX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1218264	NM_003477.3(PDHX):c.641+33A>G	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233232	NM_003477.3(PDHX):c.641+76G>A	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291366	NM_003477.3(PDHX):c.641+81T>G	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249790	NM_003477.3(PDHX):c.641+83C>A	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683430	NM_003477.3(PDHX):c.641+168A>G	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199000	NM_003477.3(PDHX):c.642-283_642-281dup	PDHX	Duplication (intron variant)	not provided	GLikely benign
Select item 385036	NM_003477.3(PDHX):c.642-19A>G	PDHX	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 214956	NM_003477.3(PDHX):c.674C>T (p.Thr225Met)	PDHX (T225M +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GUncertain significance
Select item 507144	NM_003477.3(PDHX):c.675G>A (p.Thr225=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1428370	NM_003477.3(PDHX):c.688G>A (p.Glu230Lys)	PDHX (E170K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 418869	NM_003477.3(PDHX):c.711dup (p.Thr238fs)	PDHX (T238fs +1 more)	Duplication (frameshift variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GPathogenic
Select item 1343871	NM_003477.3(PDHX):c.707C>A (p.Ala236Asp)	PDHX (A176D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 451143	NM_003477.3(PDHX):c.709C>A (p.Pro237Thr)	PDHX (P237T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1369600	NM_003477.3(PDHX):c.734C>T (p.Ser245Leu)	PDHX (S185L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 214963	NM_003477.3(PDHX):c.749C>T (p.Thr250Ile)	PDHX (T250I +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1707048	NM_003477.3(PDHX):c.767C>T (p.Pro256Leu)	PDHX (P196L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 512984	NM_003477.3(PDHX):c.769C>A (p.Arg257=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 513956	NM_003477.3(PDHX):c.789A>G (p.Val263=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 373059	NM_003477.3(PDHX):c.793dup (p.Thr265fs)	PDHX (T265fs +1 more)	Duplication (frameshift variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 138662	NM_003477.3(PDHX):c.798T>C (p.Pro266=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1186891	NM_003477.3(PDHX):c.817-43A>G	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 518057	NM_003477.3(PDHX):c.828T>G (p.Thr276=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 850125	NM_003477.3(PDHX):c.838G>A (p.Ala280Thr)	PDHX (A280T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3210871	NM_003477.3(PDHX):c.844A>G (p.Asn282Asp)	PDHX (N222D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 304473	NM_003477.3(PDHX):c.858T>C (p.Val286=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign

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