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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC6, LOC130003806
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GBenign
ERCC6, LOC130003806
Single nucleotide variant
(5 prime UTR variant +1 more)
COFS syndrome
+3 more
GBenign
ERCC6, LOC130003806
Single nucleotide variant
(intron variant)
COFS syndrome
+2 more
GUncertain significance
ERCC6
(E829del)
Microsatellite
(inframe_deletion)
Cockayne syndrome
+5 more
GUncertain significance
ERCC6
Single nucleotide variant
(synonymous variant)
COFS syndrome
+3 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ERCC6
(V1308L)
Single nucleotide variant
(missense variant)
COFS syndrome
+11 more
GBenign/Likely benign
ERCC6
(C1464S)
Single nucleotide variant
(missense variant)
COFS syndrome
+2 more
GUncertain significance
ERCC6
(S1480del)
Deletion
(inframe_deletion)
Cockayne syndrome
+5 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+3 more
GBenign
ERCC6
Duplication
(3 prime UTR variant)
COFS syndrome
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+2 more
GBenign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+3 more
GBenign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+2 more
GLikely benign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+2 more
GLikely benign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+2 more
GBenign
ERCC6
Deletion
(3 prime UTR variant)
COFS syndrome
+2 more
GBenign
ERCC6
Duplication
(3 prime UTR variant)
COFS syndrome
+2 more
GLikely benign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+2 more
GLikely benign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
COFS syndrome
+2 more
GLikely benign
ERCC6
(T699M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ERCC6
(R134W)
Single nucleotide variant
(missense variant)
COFS syndrome
+4 more
GConflicting classifications of pathogenicity
ERCC6, PGBD3
(G446D)
Single nucleotide variant
(missense variant +1 more)
Cockayne syndrome
+4 more
GBenign/Likely benign
ERCC6
Single nucleotide variant
(synonymous variant)
COFS syndrome
+4 more
GBenign
ERCC6, LOC126860933
(R975Q)
Single nucleotide variant
(missense variant)
Macular degeneration
+4 more
GConflicting classifications of pathogenicity
ERCC6
(Q1041P)
Single nucleotide variant
(missense variant)
DE SANCTIS-CACCHIONE SYNDROME
+12 more
GConflicting classifications of pathogenicity
ERCC6
(R666C)
Single nucleotide variant
(missense variant)
not specified
+12 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(intron variant)
COFS syndrome
+8 more
GBenign
ERCC6
(Q1413R)
Single nucleotide variant
(missense variant)
Cockayne syndrome
+4 more
GBenign
ERCC6
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+8 more
GBenign
ERCC6
(R1230P)
Single nucleotide variant
(missense variant)
COFS syndrome
+4 more
GBenign
ERCC6
(R1213G)
Single nucleotide variant
(missense variant)
COFS syndrome
+4 more
GBenign/Likely benign
ERCC6
(M1097V)
Single nucleotide variant
(missense variant)
COFS syndrome
+4 more
GBenign/Likely benign
ERCC6, LOC126860933
Single nucleotide variant
(synonymous variant)
Cockayne syndrome
+8 more
GBenign
ERCC6
Single nucleotide variant
(synonymous variant)
COFS syndrome
+8 more
GBenign
ERCC6, PGBD3
(G399D)
Single nucleotide variant
(missense variant +1 more)
COFS syndrome
+8 more
GBenign/Likely benign
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