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Links from MedGen

Items: 1 to 100 of 120

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC8
Indel
Cockayne syndrome type 1
GPathogenic
DEPDC1B, ELOVL7
+1 more
Deletion
Cockayne syndrome type 1
GPathogenic
ERCC8
(Y140fs +2 more)
Deletion
(frameshift variant)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
(R34fs +1 more)
Duplication
(frameshift variant +1 more)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
(T154fs +1 more)
Microsatellite
(frameshift variant +1 more)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
(Q129* +2 more)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
(A133del +2 more)
Deletion
(inframe_indel +1 more)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
(S117P +2 more)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8, ERCC8-AS1
(Y5H)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
ERCC8
(L32*)
Single nucleotide variant
(nonsense +1 more)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
(S3* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cockayne syndrome type 1
+1 more
GPathogenic/Likely pathogenic
ERCC8, ERCC8-AS1
(Y100* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8, ERCC8-AS1
(Q133* +2 more)
Single nucleotide variant
(nonsense +1 more)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
(W156* +2 more)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
(C148* +2 more)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
(Q173* +2 more)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
(I10F +1 more)
Single nucleotide variant
(missense variant +1 more)
Cockayne syndrome type 1
GPathogenic
ERCC8
(D113A +2 more)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
Single nucleotide variant
(5 prime UTR variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
(D329H +2 more)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
Single nucleotide variant
(3 prime UTR variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
Single nucleotide variant
(3 prime UTR variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
Single nucleotide variant
(3 prime UTR variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8, ERCC8-AS1
(S101T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cockayne syndrome type 1
GUncertain significance
ERCC8, ERCC8-AS1
(D70N +2 more)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8, ERCC8-AS1
Single nucleotide variant
(intron variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
(F82C +1 more)
Single nucleotide variant
(missense variant +1 more)
Cockayne syndrome type 1
GUncertain significance
ERCC8
Single nucleotide variant
(3 prime UTR variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
Single nucleotide variant
(3 prime UTR variant)
Cockayne syndrome type 1
GBenign
ERCC8
Single nucleotide variant
(3 prime UTR variant)
Cockayne syndrome type 1
GBenign
ERCC8
Single nucleotide variant
(3 prime UTR variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
Single nucleotide variant
(3 prime UTR variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
(G162D +2 more)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
(R44H +2 more)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
(S138N +2 more)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 1
+1 more
GUncertain significance
ERCC8
(S151N +2 more)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 1
+1 more
GUncertain significance
ERCC8
Single nucleotide variant
(synonymous variant)
Cockayne syndrome type 1
+1 more
GConflicting classifications of pathogenicity
ERCC8
(G62D +1 more)
Single nucleotide variant
(missense variant +1 more)
Cockayne syndrome type 1
GUncertain significance
ERCC8
(R115* +2 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
ERCC8
Single nucleotide variant
(intron variant +1 more)
Cockayne syndrome type 1
GPathogenic
ERCC8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ERCC8
(A161P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ERCC8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ERCC8
(V103I +1 more)
Single nucleotide variant
(missense variant +1 more)
Cockayne syndrome
+2 more
GConflicting classifications of pathogenicity
ERCC8
(R159fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ERCC8, ERCC8-AS1
(W49* +1 more)
Duplication
(nonsense +1 more)
Cockayne syndrome type 1
+1 more
GPathogenic/Likely pathogenic
ERCC8, NDUFAF2
Deletion
Cockayne syndrome type 1
GPathogenic
ERCC8
(G257R +2 more)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+3 more
GPathogenic/Likely pathogenic
ERCC8
Single nucleotide variant
(splice acceptor variant)
Cockayne syndrome type 1
GPathogenic
ERCC8, ERCC8-AS1
(V105fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
ERCC8
(V310fs +2 more)
Deletion
(frameshift variant)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
Single nucleotide variant
(splice acceptor variant)
Cockayne syndrome type 1
GPathogenic
ERCC8
Single nucleotide variant
(splice donor variant)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ERCC8, NDUFAF2
(Q5*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 1
GUncertain significance
ERCC8, NDUFAF2
(Q37*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 1
GUncertain significance
ERCC8
Single nucleotide variant
(splice acceptor variant)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
(G396fs +2 more)
Deletion
(frameshift variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
(T278fs +2 more)
Deletion
(frameshift variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
(E395del +2 more)
Microsatellite
(inframe_deletion)
Cockayne syndrome type 1
GUncertain significance
ERCC8
(E188del +2 more)
Deletion
(inframe_deletion)
not provided
+1 more
GUncertain significance
ERCC8
(Q322fs +2 more)
Deletion
(frameshift variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8, ERCC8-AS1
(I6fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ERCC8
(D227fs +2 more)
Deletion
(frameshift variant)
Cockayne syndrome type 1
+1 more
GPathogenic/Likely pathogenic
ERCC8
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ERCC8, ERCC8-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely pathogenic
ERCC8
(T376fs +2 more)
Deletion
(frameshift variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
(I48fs +2 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ERCC8
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
ERCC8
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
ERCC8
Single nucleotide variant
(splice acceptor variant)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
(H148del +1 more)
Microsatellite
(inframe_deletion +1 more)
Cockayne syndrome type 1
GUncertain significance
ERCC8
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ERCC8
Single nucleotide variant
(splice acceptor variant)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
ERCC8
Single nucleotide variant
(splice acceptor variant)
Cockayne syndrome type 1
GLikely pathogenic
ERCC8
(Y308fs +2 more)
Duplication
(frameshift variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8, ERCC8-AS1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
ERCC8
(D338N +2 more)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 1
+2 more
GConflicting classifications of pathogenicity
ERCC8
Single nucleotide variant
(intron variant)
Cockayne syndrome type 1
GBenign
ERCC8, ERCC8-AS1
(R41fs +1 more)
Indel
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
ERCC8
(R218* +2 more)
Duplication
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ERCC8, NDUFAF2
(Y38*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GConflicting classifications of pathogenicity
ERCC8
Single nucleotide variant
(intron variant)
Cockayne syndrome type 1
+1 more
GPathogenic/Likely pathogenic
ERCC8, ERCC8-AS1
(Y100* +1 more)
Single nucleotide variant
(nonsense +1 more)
UV-sensitive syndrome 2
+3 more
GPathogenic
ERCC8, NDUFAF2
(D6E)
Single nucleotide variant
(missense variant)
Leigh syndrome
+2 more
GUncertain significance
ERCC8
Single nucleotide variant
(5 prime UTR variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
ERCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ERCC8
(D50G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ERCC8
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ERCC8, ERCC8-AS1
(T104S +1 more)
Single nucleotide variant
(missense variant +1 more)
Cockayne syndrome type 1
GUncertain significance
ERCC8
(V137I +1 more)
Single nucleotide variant
(missense variant +1 more)
Cockayne syndrome type 1
+1 more
GUncertain significance
ERCC8
(V144I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ERCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ERCC8
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ERCC8
(L271P +2 more)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 1
GUncertain significance
ERCC8
(N357S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ERCC8
(V369L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
ERCC8
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
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