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Items: 87

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
ALG9, BCO2
+45 more
Copy number gain
See cases
GUncertain significance
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
not provided
GBenign
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
not provided
GBenign
DLAT, PIH1D2
Duplication
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GBenign
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
PIH1D2, DLAT
(Q351H +11 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DLAT, PIH1D2
(S371N +11 more)
Single nucleotide variant
(missense variant +2 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(A360V +12 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DLAT, PIH1D2
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT, PIH1D2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
DLAT, PIH1D2
(S516I +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(T382A +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(H389N +12 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DLAT, PIH1D2
(I377V +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(G379E +12 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
DLAT, PIH1D2
(V387I +12 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DLAT, PIH1D2
(T490A +12 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DLAT, PIH1D2
(R408G +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(P450Q +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(E464K +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
DLAT-related disorder
GLikely benign
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT, PIH1D2
Deletion
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT, PIH1D2
Insertion
(intron variant)
not provided
GBenign
DLAT, PIH1D2
Deletion
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GBenign
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT, PIH1D2
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E2 deficiency
+1 more
GLikely benign
DLAT, PIH1D2
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT, PIH1D2
(L414S +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(F569S +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(F576L +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GConflicting classifications of pathogenicity
DLAT, PIH1D2
(I579V +12 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DLAT, PIH1D2
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT, PIH1D2
(G450C +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(A487T +12 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DLAT, PIH1D2
(D490G +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
Duplication
(inframe_insertion +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
not provided
GBenign
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
DLAT, PIH1D2
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E2 deficiency
+1 more
GBenign/Likely benign
DLAT, PIH1D2
(V454E +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(V572F +12 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DLAT, PIH1D2
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GLikely benign
DLAT, PIH1D2
(R467W +12 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DLAT, PIH1D2
(V567L +12 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E2 deficiency
GUncertain significance
DLAT, PIH1D2
(M518V +12 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DLAT, PIH1D2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
DLAT, PIH1D2
(A280V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PIH1D2
(K281Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PIH1D2
(E280V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PIH1D2
(K238Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIH1D2
(M230I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PIH1D2
(A214V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIH1D2
(G212A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIH1D2
(L204S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIH1D2
(D198G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIH1D2
(S158T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIH1D2
(S158R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIH1D2
(T143S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIH1D2
(T82A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PIH1D2
(S25R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCO2, DIXDC1
+10 more
Copy number gain
not provided
GUncertain significance
AASDHPPT, ABCG4
+275 more
Duplication
not provided
GPathogenic
ALG9, BTG4
+20 more
Deletion
Pheochromocytoma
+3 more
GPathogenic
ALG9, BTG4
+20 more
Deletion
Pheochromocytoma
+3 more
GPathogenic
BCO2, ALG9
+24 more
Duplication
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
+1 more
GUncertain significance
ALG9, ANKK1
+50 more
Copy number loss
not provided
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
C11orf52, CRYAB
+7 more
Duplication
Dilated cardiomyopathy 1II
GUncertain significance
AASDHPPT, ACAT1
+182 more
Copy number loss
not provided
GUncertain significance
FDXACB1, FUT4
+94 more
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ALG9, BTG4
+20 more
Duplication
Paragangliomas 1
+3 more
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
VSIG2, VWA5A
+259 more
Duplication
Distal trisomy 11q
GPathogenic
DIXDC1, ALG9
+20 more
Deletion
Pheochromocytoma
+3 more
GPathogenic
AASDHPPT, ACAT1
+68 more
Copy number loss
not provided
GPathogenic
AASDHPPT, ACAT1
+76 more
Copy number loss
not provided
GPathogenic
ALG9, ANKK1
+45 more
Copy number loss
not provided
GUncertain significance
AASDHPPT, ACAT1
+80 more
Copy number loss
not provided
GPathogenic
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
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