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Links from MedGen

Items: 1 to 100 of 270

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC6
(P740fs)
Deletion
(frameshift variant)
Cerebrooculofacioskeletal syndrome 1
GPathogenic
ERCC6
(Q580*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ERCC6, ERCC6-PGBD3
(H8fs)
Deletion
(frameshift variant)
DE SANCTIS-CACCHIONE SYNDROME
+2 more
GPathogenic
ERCC6
(M841I)
Single nucleotide variant
(missense variant)
Cerebrooculofacioskeletal syndrome 1
GUncertain significance
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
(R241C)
Single nucleotide variant
(missense variant)
Cerebrooculofacioskeletal syndrome 1
+7 more
GUncertain significance
ERCC6
(R562W)
Single nucleotide variant
(missense variant)
Cerebrooculofacioskeletal syndrome 1
GLikely pathogenic
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
(splice donor variant)
Cerebrooculofacioskeletal syndrome 1
GLikely pathogenic
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GLikely benign
ERCC6
(K1254N)
Single nucleotide variant
(missense variant)
Cerebrooculofacioskeletal syndrome 1
GUncertain significance
ERCC6
(T699fs)
Duplication
(frameshift variant)
UV-sensitive syndrome 1
+7 more
GPathogenic
ERCC6, ERCC6-PGBD3
(V97M)
Single nucleotide variant
(missense variant)
Cerebrooculofacioskeletal syndrome 1
GUncertain significance
ERCC6
(D639G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ERCC6
(R612* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cerebrooculofacioskeletal syndrome 1
GPathogenic
ERCC6, ERCC6-PGBD3
+1 more
(Q566* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cerebrooculofacioskeletal syndrome 1
GUncertain significance
ERCC6, LOC126860933
(R947Q)
Single nucleotide variant
(missense variant)
Cerebrooculofacioskeletal syndrome 1
+1 more
GUncertain significance
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
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GBenign
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
(P694L)
Single nucleotide variant
(missense variant)
Age related macular degeneration 5
+4 more
GUncertain significance
ERCC6, LOC126860933
(A926P)
Single nucleotide variant
(missense variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
(S1321C)
Single nucleotide variant
(missense variant)
Cerebrooculofacioskeletal syndrome 1
+1 more
GConflicting classifications of pathogenicity
ERCC6
(R1432K)
Single nucleotide variant
(missense variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
(A1436T)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 2
+3 more
GUncertain significance
ERCC6, ERCC6-PGBD3
+1 more
(Y460S)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ERCC6
(R735L)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 2
+3 more
GConflicting classifications of pathogenicity
ERCC6
(L1255P)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 2
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(intron variant)
Premature ovarian failure 11
+6 more
GUncertain significance
ERCC6
Single nucleotide variant
(synonymous variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
(G1356D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ERCC6
(H1477R)
Single nucleotide variant
(missense variant)
Age related macular degeneration 5
+4 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6, LOC130003806
Single nucleotide variant
(5 prime UTR variant +1 more)
Age related macular degeneration 5
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+3 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+3 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GBenign
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
GBenign
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Age related macular degeneration 5
+2 more
GLikely benign
ERCC6, LOC130003806
Single nucleotide variant
(5 prime UTR variant +1 more)
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
GConflicting classifications of pathogenicity
ERCC6
(E272K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ERCC6
Single nucleotide variant
(3 prime UTR variant)
Cockayne syndrome type 2
+2 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
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ERCC6
Single nucleotide variant
(synonymous variant)
Cockayne syndrome type 2
+3 more
GConflicting classifications of pathogenicity
ERCC6
(R1298G)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 2
+3 more
GConflicting classifications of pathogenicity
ERCC6
(E1406K)
Single nucleotide variant
(missense variant)
Age related macular degeneration 5
+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
(R1038fs)
Deletion
(frameshift variant)
DE SANCTIS-CACCHIONE SYNDROME
+2 more
GLikely pathogenic
ERCC6, PGBD3
(V851A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GUncertain significance
ERCC6
Single nucleotide variant
(intron variant)
Cockayne syndrome type 2
+3 more
GConflicting classifications of pathogenicity
ERCC6, PGBD3
(R464W)
Single nucleotide variant
(missense variant +1 more)
Cockayne syndrome type 2
+4 more
GUncertain significance
ERCC6
(Y561D)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 2
+1 more
GUncertain significance
ERCC6
(K1205fs)
Deletion
(frameshift variant)
Cerebrooculofacioskeletal syndrome 1
+2 more
GLikely pathogenic
ERCC6
Single nucleotide variant
(splice acceptor variant)
Cockayne syndrome type 2
+2 more
GLikely pathogenic
ERCC6
Deletion
(inframe_indel)
Cerebrooculofacioskeletal syndrome 1
+2 more
GUncertain significance
ERCC6
(K1198fs)
Microsatellite
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ERCC6
Single nucleotide variant
(splice acceptor variant)
Cockayne syndrome type 2
+2 more
GLikely pathogenic
ERCC6, ERCC6-PGBD3
+1 more
Insertion
(inframe_insertion +1 more)
Cockayne syndrome type 2
+2 more
GUncertain significance
ERCC6
(I1320fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ERCC6
Insertion
(inframe_insertion)
DE SANCTIS-CACCHIONE SYNDROME
+2 more
GUncertain significance
ERCC6
(E608fs)
Indel
(frameshift variant)
Cerebrooculofacioskeletal syndrome 1
+2 more
GLikely pathogenic
ERCC6
(Q854*)
Single nucleotide variant
(nonsense)
Cerebrooculofacioskeletal syndrome 1
+2 more
GPathogenic
ERCC6
(P70fs)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ERCC6, ERCC6-PGBD3
Deletion
(nonsense)
Cockayne syndrome type 2
+2 more
GLikely pathogenic
ERCC6, ERCC6-PGBD3
+1 more
(E441del)
Deletion
(inframe_deletion +1 more)
Cockayne syndrome type 2
+2 more
GUncertain significance
ERCC6
Single nucleotide variant
(splice donor variant)
Cockayne syndrome type 2
+2 more
GLikely pathogenic
ERCC6
(R1039del)
Microsatellite
(inframe_deletion)
DE SANCTIS-CACCHIONE SYNDROME
+3 more
GUncertain significance
ERCC6, ERCC6-PGBD3
+1 more
(G440del)
Deletion
(inframe_deletion +1 more)
Cockayne syndrome type 2
+2 more
GUncertain significance
ERCC6
(E43del)
Microsatellite
(inframe_deletion)
DE SANCTIS-CACCHIONE SYNDROME
+3 more
GUncertain significance
ERCC6
Single nucleotide variant
(splice donor variant)
DE SANCTIS-CACCHIONE SYNDROME
+3 more
GLikely pathogenic
ERCC6
Single nucleotide variant
(splice donor variant)
Cockayne syndrome type 2
+2 more
GLikely pathogenic
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