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Links from MedGen

Items: 1 to 100 of 223

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
L2HGDH
(T153I +2 more)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
DMAC2L, L2HGDH
Single nucleotide variant
(splice donor variant +1 more)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Microsatellite
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(splice acceptor variant)
L-2-hydroxyglutaric aciduria
GLikely pathogenic
L2HGDH
Single nucleotide variant
(splice donor variant)
L-2-hydroxyglutaric aciduria
GLikely pathogenic
L2HGDH
(D82E +2 more)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
(F273V +2 more)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
(H252D +2 more)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
DMAC2L, L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
(L112R +1 more)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(G244R +2 more)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
(A361fs)
Deletion
(frameshift variant)
L-2-hydroxyglutaric aciduria
GPathogenic
L2HGDH
(P441L)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(N299D)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
DMAC2L, L2HGDH
Deletion
(splice donor variant +1 more)
L-2-hydroxyglutaric aciduria
GLikely pathogenic
L2HGDH
(G211V)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(P177fs)
Indel
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
L2HGDH
Deletion
L-2-hydroxyglutaric aciduria
GPathogenic
L2HGDH
Deletion
L-2-hydroxyglutaric aciduria
GPathogenic
L2HGDH
(A448P)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(A62T)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(A332T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
L2HGDH
(R307Q)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(P340S)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
DMAC2L, L2HGDH
(A26V)
Single nucleotide variant
(missense variant +1 more)
L-2-hydroxyglutaric aciduria
+1 more
GUncertain significance
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
DMAC2L, L2HGDH
(G40S)
Single nucleotide variant
(missense variant +1 more)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(P162L)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(F377S)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
(E268V)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
DMAC2L, L2HGDH
(S23Y)
Single nucleotide variant
(missense variant +1 more)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(G60R)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GPathogenic
L2HGDH
(R282P)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Deletion
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
(K81E)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GPathogenic
L2HGDH
(R251*)
Single nucleotide variant
(nonsense)
L-2-hydroxyglutaric aciduria
GPathogenic
L2HGDH
(R282W)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(E336K)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
(V420I)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(P276S)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(splice donor variant)
L-2-hydroxyglutaric aciduria
GPathogenic
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
DMAC2L, L2HGDH
(S41G)
Single nucleotide variant
(missense variant +1 more)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
(I76V)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(D342N)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
(I447V)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
(F315fs)
Deletion
(frameshift variant)
L-2-hydroxyglutaric aciduria
GPathogenic
L2HGDH
(R460I)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(A64P)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
DMAC2L, L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
+1 more
GUncertain significance
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
(S230P)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
DMAC2L, L2HGDH
Single nucleotide variant
(synonymous variant +1 more)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
(Y373C)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Deletion
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
(F49L)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
DMAC2L, L2HGDH
(S41N)
Single nucleotide variant
(missense variant +1 more)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(L261F)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(S344N)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
DMAC2L, L2HGDH
(Y7H)
Single nucleotide variant
(missense variant +1 more)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(A361E)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
(Y123C)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GLikely pathogenic
DMAC2L, L2HGDH
Single nucleotide variant
(synonymous variant +1 more)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(synonymous variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Duplication
(intron variant)
L-2-hydroxyglutaric aciduria
GBenign
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Single nucleotide variant
(intron variant)
L-2-hydroxyglutaric aciduria
GLikely benign
L2HGDH
Deletion
(intron variant)
L-2-hydroxyglutaric aciduria
GBenign
L2HGDH
Duplication
(intron variant)
L-2-hydroxyglutaric aciduria
GBenign
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