ClinVar for MedGen (Select 343383) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 122

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064939	NM_003477.3(PDHX):c.1023+2267A>G	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
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 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 2501716	NM_003477.3(PDHX):c.791C>G (p.Ser264Ter)	PDHX (S204* +1 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely pathogenic
Select item 2445919	NC_000011.9:g.(34988362_34991685)_(34991834_34999670)del	PDHX	Deletion	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely pathogenic
Select item 2441847	NM_003477.3(PDHX):c.1012dup (p.Val338fs)	PDHX (V278fs +1 more)	Duplication (frameshift variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely pathogenic
Select item 2434638	NM_003477.3(PDHX):c.793A>G (p.Thr265Ala)	PDHX (T205A +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 2434637	NM_003477.3(PDHX):c.293C>T (p.Ala98Val)	PDHX (A38V +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 2434635	NM_003477.3(PDHX):c.1418G>C (p.Ser473Thr)	PDHX (S246T +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency	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 2412719	NM_003477.3(PDHX):c.557del (p.Pro186fs)	PDHX (P126fs +1 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GPathogenic/Likely pathogenic
Select item 1810301	NM_003477.3(PDHX):c.794C>T (p.Thr265Ile)	PDHX (T205I +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	Gnot provided
Select item 1722384	NC_000011.9:g.(34953032_34969052)_(34999730_35006116)del	PDHX	Deletion	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely pathogenic
Select item 1609107	NM_003477.3(PDHX):c.242-17C>T	PDHX	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1479277	NM_003477.3(PDHX):c.542G>A (p.Arg181Gln)	PDHX (R181Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 951032	NM_003477.3(PDHX):c.970A>G (p.Ile324Val)	PDHX (I324V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 931240	NM_003477.3(PDHX):c.1292T>C (p.Val431Ala)	PDHX (V431A +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely pathogenic
Select item 930847	NM_003477.3(PDHX):c.1204G>T (p.Asp402Tyr)	PDHX (D402Y +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 880250	NM_003477.3(PDHX):c.1450A>G (p.Thr484Ala)	PDHX (T257A +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 880249	NM_003477.3(PDHX):c.1164A>G (p.Glu388=)	PDHX	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 880153	NM_015957.4(APIP):c.57+91G>T	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely benign
Select item 879084	NM_003477.3(PDHX):c.*904G>T	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely benign
Select item 879083	NM_003477.3(PDHX):c.*874A>G	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 879082	NM_003477.3(PDHX):c.*821A>T	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 879035	NM_003477.3(PDHX):c.940A>G (p.Lys314Glu)	PDHX (K314E +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	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 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 878504	NM_003477.3(PDHX):c.*783G>T	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 878503	NM_003477.3(PDHX):c.*742C>T	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 878502	NM_003477.3(PDHX):c.*662A>T	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	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 877419	NM_003477.3(PDHX):c.402A>G (p.Glu134=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GConflicting classifications of pathogenicity
Select item 877365	NM_015957.4(APIP):c.-30T>C	LOC130005547, PDHX +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely benign
Select item 877364	NM_015957.4(APIP):c.57+57C>G	PDHX, APIP +1 more	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 852646	NM_003477.3(PDHX):c.1034A>T (p.Asp345Val)	PDHX (D345V +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GUncertain significance
Select item 737899	NM_003477.3(PDHX):c.242-4G>A	PDHX	Single nucleotide variant (intron variant)	PDHX-related condition +2 more	GConflicting classifications of pathogenicity
Select item 638884	NM_003477.3(PDHX):c.622C>T (p.Arg208Trp)	PDHX (R208W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 632159	NM_003477.3(PDHX):c.403G>T (p.Gly135Ter)	PDHX (G135* +1 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 489392	NM_003477.3(PDHX):c.479G>A (p.Arg160His)	PDHX (R160H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 418869	NM_003477.3(PDHX):c.711dup (p.Thr238fs)	PDHX (T238fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 373059	NM_003477.3(PDHX):c.793dup (p.Thr265fs)	PDHX (T265fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 304486	NM_003477.3(PDHX):c.*890T>C	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GBenign
Select item 304485	NM_003477.3(PDHX):c.*763G>A	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304484	NM_003477.3(PDHX):c.*743G>A	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304483	NM_003477.3(PDHX):c.*650G>A	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304482	NM_003477.3(PDHX):c.*644C>A	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GBenign
Select item 304481	NM_003477.3(PDHX):c.*486G>T	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GBenign
Select item 304480	NM_003477.3(PDHX):c.*331G>C	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304479	NM_003477.3(PDHX):c.*259G>T	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304478	NM_003477.3(PDHX):c.*200T>C	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304477	NM_003477.3(PDHX):c.*173G>A	PDHX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 304476	NM_003477.3(PDHX):c.*123A>G	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304475	NM_003477.3(PDHX):c.*114A>G	PDHX	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely benign
Select item 304474	NM_003477.3(PDHX):c.*27A>C	PDHX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 304473	NM_003477.3(PDHX):c.858T>C (p.Val286=)	PDHX	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign
Select item 304472	NM_003477.3(PDHX):c.841A>G (p.Ser281Gly)	PDHX (S281G +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304471	NM_003477.3(PDHX):c.702T>C (p.Thr234=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 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 304469	NM_003477.3(PDHX):c.585C>G (p.His195Gln)	PDHX (H195Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304468	NM_003477.3(PDHX):c.577G>C (p.Glu193Gln)	PDHX (E193Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304467	NM_003477.3(PDHX):c.542+10T>C	PDHX	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 304466	NM_003477.3(PDHX):c.532G>A (p.Gly178Arg)	PDHX (G178R +1 more)	Single nucleotide variant (missense variant +1 more)	PDHX-related condition +2 more	GLikely benign
Select item 304465	NM_003477.3(PDHX):c.511G>A (p.Val171Ile)	PDHX (V171I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 304464	NM_003477.3(PDHX):c.474G>A (p.Glu158=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign/Likely benign
Select item 304463	NM_003477.3(PDHX):c.301A>G (p.Thr101Ala)	PDHX (T101A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 304462	NM_003477.3(PDHX):c.161-6T>C	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +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)	PDHX-related condition +2 more	GConflicting classifications of pathogenicity
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 304459	NM_003477.2(PDHX):c.-88C>A	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +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 304457	NM_003477.2(PDHX):c.-129C>T	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
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 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 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 304451	NM_003477.2(PDHX):c.-272G>A	PDHX	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 304450	NM_015957.4(APIP):c.-70T>C	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304449	NM_015957.4(APIP):c.-53C>T	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304448	NM_015957.4(APIP):c.-18G>A	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304447	NM_015957.4(APIP):c.-14C>T	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304446	NM_015957.4(APIP):c.-1C>T	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304445	NM_015957.4(APIP):c.19C>T (p.Arg7Trp)	APIP, LOC130005547 +1 more (R7W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 304444	NM_015957.4(APIP):c.57+77C>T	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 304443	NM_015957.4(APIP):c.57+78A>G	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 286348	NM_003477.3(PDHX):c.108T>C (p.Ser36=)	LOC130005549, PDHX	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +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 286346	NM_003477.3(PDHX):c.-4C>G	LOC130005549, PDHX	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 286137	NM_003477.3(PDHX):c.63C>T (p.Pro21=)	LOC130005549, PDHX	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 282337	NM_003477.3(PDHX):c.317A>G (p.Asp106Gly)	PDHX (D106G +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GUncertain significance
Select item 214965	NM_003477.3(PDHX):c.1061G>A (p.Gly354Asp)	PDHX (G354D +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GUncertain significance
Select item 214964	NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly)	PDHX (D351G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 214962	NM_003477.3(PDHX):c.640G>C (p.Glu214Gln)	PDHX (E214Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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 (intron variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214959	NM_003477.3(PDHX):c.1333T>G (p.Phe445Val)	PDHX (F445V +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign/Likely benign
Select item 214958	NM_003477.3(PDHX):c.1129A>G (p.Ile377Val)	PDHX (I377V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 214956	NM_003477.3(PDHX):c.674C>T (p.Thr225Met)	PDHX (T225M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 214955	NM_003477.3(PDHX):c.579A>G (p.Glu193=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214953	NM_003477.3(PDHX):c.-23C>A	LOC130005549, PDHX	Single nucleotide variant (5 prime UTR variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 162202	NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)	PDHX (R446* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 2