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Links from MedGen

Items: 1 to 100 of 1336

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD1
Deletion
Adrenoleukodystrophy
GPathogenic
ABCD1
Deletion
Adrenoleukodystrophy
GPathogenic
ABCD1
Deletion
Adrenoleukodystrophy
GPathogenic
ABCD1
Deletion
Adrenoleukodystrophy
GPathogenic
ABCD1
Deletion
Adrenoleukodystrophy
GPathogenic
GAB3, GDI1
+40 more
Deletion
Adrenoleukodystrophy
+6 more
GPathogenic
ABCD1
(I140fs)
Duplication
(frameshift variant)
Adrenoleukodystrophy
GLikely pathogenic
ABCD1
(L229P)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GPathogenic
ABCD1
(F333I)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
(S309F)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
Single nucleotide variant
(splice acceptor variant)
Adrenoleukodystrophy
GLikely pathogenic
ABCD1
(E592K)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
(R617L)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
(V3fs)
Deletion
(frameshift variant)
Adrenoleukodystrophy
GPathogenic
ABCD1
(L503fs)
Deletion
(frameshift variant)
Adrenoleukodystrophy
GLikely pathogenic
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GBenign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GBenign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(A50T)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
(A168V)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
(V365E)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(P7S)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(E682K)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(V365L)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GBenign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(A57T)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(W10C)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(A727fs)
Deletion
(frameshift variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(L703fs)
Deletion
(frameshift variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
(E376K)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(A647S)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GLikely pathogenic
ABCD1
(G51R)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(L78H)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
(M539L)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(P243R)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(L78R)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(L220R)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GLikely pathogenic
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(L684G)
Indel
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GBenign
ABCD1
(R381F)
Indel
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(A255P)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(A29P)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(M403V)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
(M566V)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(K367E)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
(F252L)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
(C511fs)
Deletion
(frameshift variant)
Adrenoleukodystrophy
GPathogenic
ABCD1
(D674H)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
(A626V)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GPathogenic
ABCD1
Deletion
(inframe_deletion)
Adrenoleukodystrophy
GLikely pathogenic
ABCD1
Single nucleotide variant
(synonymous variant)
Adrenoleukodystrophy
GLikely benign
ABCD1
(G248D)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
Single nucleotide variant
(intron variant)
Adrenoleukodystrophy
GUncertain significance
ABCD1
(S284P)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GLikely pathogenic
ABCD1
(L306R)
Single nucleotide variant
(missense variant)
Adrenoleukodystrophy
GLikely pathogenic
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