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Links from MedGen

Items: 1 to 100 of 351

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC6
(K774fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GPathogenic
AGAP6, ARHGAP22
+22 more
Deletion
Cockayne syndrome type 2
GPathogenic
ERCC6, ERCC6-PGBD3
(H8fs)
Deletion
(frameshift variant)
DE SANCTIS-CACCHIONE SYNDROME
+2 more
GPathogenic
ERCC6
(R1087*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ERCC6
(K879fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, LOC126860933
(R961fs)
Insertion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(D770fs)
Insertion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(T712fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(K1228*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(S489fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, LOC126860933
(Y932*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(Q679*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, ERCC6-PGBD3
+1 more
(E392*)
Single nucleotide variant
(nonsense +1 more)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, ERCC6-PGBD3
+1 more
(A436fs)
Deletion
(frameshift variant +1 more)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(V1226fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(Y638*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(S636fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(S1209fs)
Insertion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, ERCC6-PGBD3
+1 more
(K405fs)
Insertion
(frameshift variant +1 more)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(G347fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
+1 more
GPathogenic/Likely pathogenic
ERCC6
(L1001fs)
Indel
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(H605fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(L1200fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, ERCC6-PGBD3
(K152*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
PGBD3, ERCC6
+1 more
(K405*)
Single nucleotide variant
(nonsense +1 more)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(F703fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(E1079fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, ERCC6-PGBD3
+1 more
(D385fs)
Indel
(frameshift variant +1 more)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, ERCC6-PGBD3
(E155*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, ERCC6-PGBD3
(K259*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, ERCC6-PGBD3
+1 more
(K448*)
Single nucleotide variant
(nonsense +1 more)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(K1258fs)
Indel
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(A1191fs)
Insertion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(Q723fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(T587fs)
Microsatellite
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(W1169fs)
Duplication
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, ERCC6-PGBD3
(E207*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, ERCC6-PGBD3
+1 more
(K405fs)
Deletion
(frameshift variant +1 more)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(Q1164fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(Y642*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(C573*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(I850fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, ERCC6-PGBD3
+1 more
(D425fs)
Insertion
(frameshift variant +1 more)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(T623fs)
Indel
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(G1108*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(K849fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, ERCC6-PGBD3
(E182fs)
Duplication
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(E284*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
+1 more
GPathogenic
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
ERCC6
(F1339L)
Single nucleotide variant
(missense variant)
Age related macular degeneration 5
+8 more
GUncertain significance
ERCC6
(N902S)
Single nucleotide variant
(missense variant)
Cerebrooculofacioskeletal syndrome 1
+7 more
GUncertain significance
ERCC6
(I738L)
Single nucleotide variant
(missense variant)
Cerebrooculofacioskeletal syndrome 1
+8 more
GConflicting classifications of pathogenicity
ERCC6
(F779fs)
Deletion
(frameshift variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(R241C)
Single nucleotide variant
(missense variant)
Cerebrooculofacioskeletal syndrome 1
+7 more
GUncertain significance
ERCC6
(E218K)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 2
GUncertain significance
ERCC6
Single nucleotide variant
(intron variant)
DE SANCTIS-CACCHIONE SYNDROME
+4 more
GBenign
ERCC6
(K607M)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GLikely benign
ERCC6
(T699fs)
Duplication
(frameshift variant)
UV-sensitive syndrome 1
+7 more
GPathogenic
ERCC6
(R612* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cerebrooculofacioskeletal syndrome 1
GPathogenic
ERCC6
(E1253*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(Q192*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ERCC6
(K506*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(R593*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(K606*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(L734*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(Q794*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(W835*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(L848*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(Q856*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, LOC126860933
(W936*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6, LOC126860933
(W949*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(E1003*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(G1024*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(K1033*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(E1119*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(K1150*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(Y1155*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(K1182*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(E1192*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(R1213*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
(G1219*)
Single nucleotide variant
(nonsense)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6-PGBD3, ERCC6
Single nucleotide variant
(splice donor variant)
Cockayne syndrome type 2
GLikely pathogenic
ERCC6
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ERCC6
(R1301C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6, ERCC6-PGBD3
(V320L)
Single nucleotide variant
(missense variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GLikely benign
ERCC6, PGBD3
(R413W)
Single nucleotide variant
(missense variant +1 more)
Age related macular degeneration 5
+4 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(intron variant)
Cockayne syndrome type 2
+3 more
GConflicting classifications of pathogenicity
ERCC6
(T144M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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