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 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GUncertain significance
Select item 3338423	Single allele	APIP, CD44 +74 more	Duplication	11p13 microduplication syndrome	GUncertain significance
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	APIP, PDHX	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 880153	NM_003477.2(PDHX):c.-519C>A	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely benign
Select item 304443	NM_003477.2(PDHX):c.-506T>C	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304444	NM_003477.2(PDHX):c.-505G>A	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 877364	NM_003477.2(PDHX):c.-485G>C	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 3127824	NM_015957.4(APIP):c.26G>C (p.Gly9Ala)	APIP, LOC130005547 +1 more (G9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 304446	NM_003477.2(PDHX):c.-371G>A	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304447	NM_003477.2(PDHX):c.-358G>A	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304448	NM_003477.2(PDHX):c.-354C>T	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 877365	NM_003477.2(PDHX):c.-342A>G	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely benign
Select item 304449	NM_003477.2(PDHX):c.-319G>A	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +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 1329013	NC_000011.10:g.34916379C>G	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 304451	NM_003477.2(PDHX):c.-272G>A	PDHX	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 304452	NM_003477.2(PDHX):c.-271G>T	PDHX	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GUncertain significance
Select item 304453	NM_003477.2(PDHX):c.-208C>T	LOC130005548, PDHX	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely benign
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 3338992	NM_003477.3(PDHX):c.-195_-180dup16	PDHX	Duplication (genic upstream transcript variant +1 more)	not specified	GUncertain significance
Select item 590822	NM_001135024.2(PDHX):c.-48del	PDHX	Deletion (5 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 1301651	NM_003477.2(PDHX):c.-178T>C	PDHX	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 878391	NM_003477.2(PDHX):c.-162C>A	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304455	NM_003477.2(PDHX):c.-155G>A	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304456	NM_003477.2(PDHX):c.-129_-127delCGG	PDHX	Deletion (intron variant)	Pyruvate dehydrogenase complex deficiency +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)	not provided +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 878981	NM_003477.3(PDHX):c.-27C>T	LOC130005549, PDHX	Single nucleotide variant (5 prime UTR variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
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 304460	NM_003477.3(PDHX):c.-7C>T	LOC130005549, PDHX	Single nucleotide variant (5 prime UTR variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 286346	NM_003477.3(PDHX):c.-4C>G	LOC130005549, PDHX	Single nucleotide variant (5 prime UTR variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GBenign
Select item 2108971	NM_003477.3(PDHX):c.5C>T (p.Ala2Val)	LOC130005549, PDHX (A2V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2477707	NM_003477.3(PDHX):c.19C>G (p.Leu7Val)	LOC130005549, PDHX (L7V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1368844	NM_003477.3(PDHX):c.22G>T (p.Gly8Cys)	LOC130005549, PDHX (G8C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2434634	NM_003477.3(PDHX):c.23G>C (p.Gly8Ala)	LOC130005549, PDHX (G8A)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 1007315	NM_003477.3(PDHX):c.25T>C (p.Cys9Arg)	LOC130005549, PDHX (C9R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1348876	NM_003477.3(PDHX):c.27T>G (p.Cys9Trp)	LOC130005549, PDHX (C9W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2094021	NM_003477.3(PDHX):c.28G>A (p.Asp10Asn)	LOC130005549, PDHX (D10N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1331441	NM_003477.3(PDHX):c.28G>T (p.Asp10Tyr)	LOC130005549, PDHX (D10Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1400252	NM_003477.3(PDHX):c.32C>A (p.Pro11Gln)	LOC130005549, PDHX (P11Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 878982	NM_003477.3(PDHX):c.35G>A (p.Arg12Gln)	LOC130005549, PDHX (R12Q)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 1360691	NM_003477.3(PDHX):c.37C>T (p.Leu13=)	PDHX, LOC130005549	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2582466	NM_003477.3(PDHX):c.38T>C (p.Leu13Pro)	LOC130005549, PDHX (L13P)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
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 2159311	NM_003477.3(PDHX):c.47A>G (p.Tyr16Cys)	LOC130005549, PDHX (Y16C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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)	PDHX, LOC130005549 (R23C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 3062319	NM_003477.3(PDHX):c.70C>T (p.Arg24Ter)	LOC130005549, PDHX (R24*)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely pathogenic
Select item 138654	NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)	LOC130005549, PDHX (R24G)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GBenign
Select item 2111	NM_003477.2(PDHX):c.78_162del	LOC130005549, PDHX	Deletion	Pyruvate dehydrogenase E3-binding protein deficiency	GPathogenic
Select item 2079115	NM_003477.3(PDHX):c.80G>A (p.Gly27Glu)	LOC130005549, PDHX (G27E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1603468	NM_003477.3(PDHX):c.82C>T (p.Leu28=)	LOC130005549, PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2113	NM_003477.3(PDHX):c.88_91del (p.Lys30fs)	LOC130005549, PDHX (K30fs)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GPathogenic
Select item 849007	NM_003477.3(PDHX):c.97C>T (p.Leu33Phe)	LOC130005549, PDHX (L33F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 286348	NM_003477.3(PDHX):c.108T>C (p.Ser36=)	LOC130005549, PDHX	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 744981	NM_003477.3(PDHX):c.114C>T (p.Ser38=)	LOC130005549, PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2616749	NM_003477.3(PDHX):c.116G>C (p.Arg39Pro)	LOC130005549, PDHX (R39P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305507	NM_003477.3(PDHX):c.118G>A (p.Gly40Arg)	LOC130005549, PDHX (G40R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 424121	NM_003477.3(PDHX):c.134G>A (p.Trp45Ter)	LOC130005549, PDHX (W45*)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GLikely pathogenic
Select item 1352733	NM_003477.3(PDHX):c.151T>A (p.Trp51Arg)	LOC130005549, PDHX (W51R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2315559	NM_003477.3(PDHX):c.155T>G (p.Leu52Arg)	LOC130005549, PDHX (L52R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1403509	NM_003477.3(PDHX):c.157C>T (p.Arg53Trp)	LOC130005549, PDHX (R53W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 284066	NM_003477.3(PDHX):c.160+9C>T	LOC130005549, PDHX	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1669344	NM_003477.3(PDHX):c.160+11G>A	LOC130005549, PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1533546	NM_003477.3(PDHX):c.160+15C>T	LOC130005549, PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138655	NM_003477.3(PDHX):c.160+15C>G	PDHX, LOC130005549	Single nucleotide variant (intron variant)	not provided +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 1641430	NM_003477.3(PDHX):c.161-10del	PDHX	Deletion (intron variant)	not provided	GBenign
Select item 1975454	NM_003477.3(PDHX):c.161-15T>G	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 304462	NM_003477.3(PDHX):c.161-6T>C	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2175248	NM_003477.3(PDHX):c.161-2A>G	PDHX	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1921739	NM_003477.3(PDHX):c.166C>G (p.Pro56Ala)	PDHX (P56A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1986900	NM_003477.3(PDHX):c.173A>C (p.Lys58Thr)	PDHX (K58T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1924746	NM_003477.3(PDHX):c.191T>G (p.Leu64Arg)	PDHX (L4R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683144	NM_003477.3(PDHX):c.199A>G (p.Thr67Ala)	PDHX (T67A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2228863	NM_003477.3(PDHX):c.202A>G (p.Met68Val)	PDHX (M68V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 660921	NM_003477.3(PDHX):c.211G>T (p.Gly71Ter)	PDHX (G71* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1553401	NM_003477.3(PDHX):c.225A>G (p.Lys75=)	PDHX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 138656	NM_003477.3(PDHX):c.241+3G>A	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GBenign
Select item 1117044	NM_003477.3(PDHX):c.241+8G>A	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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