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Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC6
(Q1342P)
Single nucleotide variant
(missense variant)
Premature ovarian failure 11
GUncertain significance
ERCC6
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
ERCC6
(F1339L)
Single nucleotide variant
(missense variant)
not specified
+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)
Cockayne syndrome type 2
+8 more
GConflicting classifications of pathogenicity
ERCC6
(R241C)
Single nucleotide variant
(missense variant)
Cerebrooculofacioskeletal syndrome 1
+7 more
GUncertain significance
ERCC6
(K607M)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
ERCC6
Single nucleotide variant
(synonymous variant)
Age related macular degeneration 5
+7 more
GLikely benign
ERCC6
(T699fs)
Duplication
(frameshift variant)
not provided
+7 more
GPathogenic
ERCC6
(R612* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cerebrooculofacioskeletal syndrome 1
GPathogenic
ERCC6
Single nucleotide variant
(intron variant)
Premature ovarian failure 11
+6 more
GUncertain significance
ERCC6, PGBD3
(V851A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GUncertain significance
ERCC6, ERCC6-PGBD3
Single nucleotide variant
(intron variant +1 more)
not specified
+7 more
GUncertain significance
ERCC6
Single nucleotide variant
(splice acceptor variant)
Age related macular degeneration 5
+7 more
GPathogenic/Likely pathogenic
ERCC6
(R612*)
Single nucleotide variant
(nonsense)
DE SANCTIS-CACCHIONE SYNDROME
+8 more
GPathogenic/Likely pathogenic
ERCC6
(V709I)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 2
+7 more
GConflicting classifications of pathogenicity
ERCC6
(Y882C)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
ERCC6
(K997E)
Single nucleotide variant
(missense variant)
Age related macular degeneration 5
+7 more
GConflicting classifications of pathogenicity
ERCC6
(V1308L)
Single nucleotide variant
(missense variant)
COFS syndrome
+11 more
GBenign/Likely benign
ERCC6
(E215*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
ERCC6, ERCC6-PGBD3
+1 more
(G746D +1 more)
Single nucleotide variant
(missense variant +1 more)
Premature ovarian failure 11
GPathogenic
ERCC6
(Q156*)
Single nucleotide variant
(nonsense)
not provided
+7 more
GPathogenic
ERCC6
(G1356S)
Single nucleotide variant
(missense variant)
UV-sensitive syndrome 1
+7 more
GConflicting classifications of pathogenicity
ERCC6
(R1396G)
Single nucleotide variant
(missense variant)
Cockayne syndrome type 2
+8 more
GUncertain significance
ERCC6
(Q1041P)
Single nucleotide variant
(missense variant)
COFS syndrome
+12 more
GConflicting classifications of pathogenicity
ERCC6, LOC126860933
Single nucleotide variant
(splice acceptor variant)
UV-sensitive syndrome 1
+7 more
GPathogenic
ERCC6
(Q723*)
Single nucleotide variant
(nonsense)
ERCC6-Related Disorders
+10 more
GPathogenic/Likely pathogenic
ERCC6
(R666C)
Single nucleotide variant
(missense variant)
COFS syndrome
+12 more
GConflicting classifications of pathogenicity
ERCC6
(K553N)
Single nucleotide variant
(missense variant)
UV-sensitive syndrome 1
+8 more
GUncertain significance
ERCC6
(R683*)
Single nucleotide variant
(nonsense)
Premature ovarian failure 11
+8 more
GPathogenic/Likely pathogenic
ERCC6, PGBD3
(R453*)
Single nucleotide variant
(nonsense +1 more)
Premature ovarian failure 11
+7 more
GPathogenic
ERCC6
(R735*)
Single nucleotide variant
(nonsense)
Premature ovarian failure 11
+8 more
GPathogenic
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